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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| XPC | 613208 | 278720 | 3p25 | 1208_1209delAA | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 2 |
| XPC | 613208 | 278720 | 3p25 | 1395_1400delTAAAGA | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 4 |
| XPC | 613208 | 278720 | 3p25 | 1744_1745delTG | 0010 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 8 |
| XPC | 613208 | 278720 | 3p25 | 2-BP DEL, 1132AA | 0004 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 2 |
| XPC | 613208 | 278720 | 3p25 | 2-BP DEL, 669AT | 0006 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 7 |
| XPC | 613208 | 278720 | 3p25 | 3-BP INS, GGT, CODON 580 AND LYS822GLN | 0003 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 2 |
| XPC | 613208 | 278720 | 3p25 | 525_528delTGAG | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 3 |
| XPC | 613208 | 278720 | 3p25 | 83-BP INS, NT462 | 0002 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 2 |
| XPC | 613208 | 278720 | 3p25 | ARG155TER | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 3 |
| XPC | 613208 | 278720 | 3p25 | ARG579TER | 0007 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 6 |
| XPC | 613208 | 278720 | 3p25 | c.2152C>T (p.Arg718Ter) | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC | 1 |
| XPC | 613208 | 278720 | 3p25 | c.2T>G | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC | 1 |
| XPC | 613208 | 278720 | 3p25 | IVS11-1_IVS11-2delAG; IVS11-6_IVS11-7insCC | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 3 |
| XPC | 613208 | 278720 | 3p25 | IVS3AS,A>G,-24 | 0009 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 5 |
| XPC | 613208 | 278720 | 3p25 | IVS3AS,T>A,-9 | 0008 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 6 |
| XPC | 613208 | 278720 | 3p25 | IVS5.1-2A>C | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 5 |
| XPC | 613208 | 278720 | 3p25 | IVS5.1-2A>G | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 3 |
| XPC | 613208 | 278720 | 3p25 | IVS9DS, T>G, +2 | 0005 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, WITH AUTISM AND HYPOGLYCINEMIA | 1 |
| XPC | 613208 | 278720 | 3p25 | LYS522TER | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 4 |
| XPC | 613208 | 278720 | 3p25 | LYS692TER | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 2 |