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Gene Mutations
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| Records Return:
(10)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| POLH | 603968 | 278750 | 6p21.1-p12 | 1 BP DEL, 207G | 0010 | XERODERMA PIGMENTOSUM, VARIANT TYPE | 1 |
| POLH | 603968 | 278750 | 6p21.1-p12 | 104 BP DEL, NT661 | 0009 | XERODERMA PIGMENTOSUM, VARIANT TYPE | 1 |
| POLH | 603968 | 278750 | 6p21.1-p12 | 1078insG | | XERODERMA PIGMENTOSUM, VARIANT TYPE | 1 |
| POLH | 603968 | 278750 | 6p21.1-p12 | 13 BP DEL, NT 343 | 0001 | XERODERMA PIGMENTOSUM, VARIANT TYPE | 1 |
| POLH | 603968 | 278750 | 6p21.1-p12 | 3 BP DEL, NT222 | 0011 | XERODERMA PIGMENTOSUM, VARIANT TYPE | 1 |
| POLH | 603968 | 278750 | 6p21.1-p12 | c.454C>T (p.Gln152Ter) | | XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV | 3 |
| POLH | 603968 | 603968 | 6p21.1-p12 | c.764+1G>C | | XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV | 1 |
| POLH | 603968 | 278750 | 6p21.1-p12 | GLU22TER | | XERODERMA PIGMENTOSUM, VARIANT TYPE | 1 |
| POLH | 603968 | 278750 | 6p21.1-p12 | VAL125TER | 0006 | XERODERMA PIGMENTOSUM, VARIANT TYPE | 2 |
| POLH | 603968 | 278750 | 6p21.1-p12 | VAL372TER | 0007 | XERODERMA PIGMENTOSUM, VARIANT TYPE | 1 |
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