ClinVar Miner

List of variants reported as benign for Xeroderma pigmentosum by Sema4, Sema4

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_000400.4(ERCC2):c.417C>G (p.Ala139=) rs145239390 0.00287
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253
NM_004628.5(XPC):c.2232A>C (p.Pro744=) rs189619298 0.00221
NM_000400.4(ERCC2):c.1832-6C>T rs1799789 0.00211
NM_000400.4(ERCC2):c.2191-4G>A rs201840907 0.00143
NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val) rs34517175 0.00068
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_000380.4(XPA):c.568T>G (p.Ser190Ala) rs555812588 0.00002
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe) rs55761944

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