List of variants reported as likely pathogenic for Xeroderma pigmentosum by Sema4, Sema4

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	rs121913049	0.00013
NM_000122.2(ERCC3):c.1757del (p.Gln586fs)	rs753182861	0.00012
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr)	rs370454709	0.00004
NM_000122.2(ERCC3):c.235-1G>A	rs1420747225
NM_000380.4(XPA):c.378T>G (p.Cys126Trp)	rs1451780491
NM_000380.4(XPA):c.428_429del (p.Glu143fs)	rs1554701540
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)	rs376556895
NM_005236.3(ERCC4):c.2017+1G>C	rs587777943

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