ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group C by OMIM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
Multiple alleles
NM_004628.4(XPC):c.621_622ins83 (p.?)
NM_004628.5(XPC):c.1292_1293del (p.Lys431fs) rs794729654
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.2033+2T>G rs794729655
NM_004628.5(XPC):c.413-24A>G rs794729657
NM_004628.5(XPC):c.413-9T>A rs794729656
NM_004628.5(XPC):c.566_567del (p.Tyr189fs) rs752088918

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