ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group C by Claritas Genomics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004628.5(XPC):c.2251-1G>C	rs754673606	0.00006
NM_004628.5(XPC):c.622-2A>C	rs201940931	0.00003
NM_004628.5(XPC):c.1643_1644del (p.Val548fs)	rs754532049
NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter)	rs767569346
NM_004628.5(XPC):c.2262del (p.Asn754fs)	rs786205206

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