ClinVar Miner

List of variants reported as pathogenic for Xeroderma pigmentosum by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_000123.4(ERCC5):c.2453C>T (p.Ala818Val) rs774078839 0.00004
NM_000380.4(XPA):c.555+8A>G rs756967163 0.00004
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter) rs757958943 0.00004
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter) rs374117852 0.00004
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570 0.00003
NM_000380.4(XPA):c.331G>T (p.Glu111Ter) rs769255883 0.00003
NM_004628.5(XPC):c.622-2A>C rs201940931 0.00003
NM_006502.3(POLH):c.1078dup (p.Asp360fs) rs1277794845 0.00003
NM_000380.4(XPA):c.555G>C (p.Gln185His) rs746617574 0.00002
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) rs1450238352 0.00002
NM_000380.4(XPA):c.390-1G>C rs750218942 0.00001
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_004628.5(XPC):c.658C>T (p.Arg220Ter) rs745679643 0.00001
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
NM_000122.2(ERCC3):c.471+1G>A rs1558964705
NM_000123.4(ERCC5):c.1975del (p.Ser659fs) rs1882806435
NM_000123.4(ERCC5):c.2606_2607del (p.Val869fs) rs779078202
NM_000123.4(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.4(ERCC5):c.922_923del (p.Leu308fs) rs1882641004
NM_000380.4(XPA):c.349_353del (p.Leu117fs) rs1200172747
NM_000380.4(XPA):c.631C>T (p.Arg211Ter) rs149226993
NM_000380.4(XPA):c.648_649del (p.Lys217fs) rs1057519018
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000400.4(ERCC2):c.[1381C>G;2150C>G]
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.1704T>A (p.Tyr568Ter) rs1695999145
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.420_423del (p.Glu141fs) rs1330667099
NM_004628.5(XPC):c.463C>T (p.Arg155Ter) rs755825264
NM_004628.5(XPC):c.566_567del (p.Tyr189fs) rs752088918
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770

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