ClinVar Miner

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

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_000122.2(ERCC3):c.1757del (p.Gln586fs) rs753182861 0.00012
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter) rs778865255 0.00003
NM_000400.4(ERCC2):c.1479+2dup rs776705174 0.00002
NM_004628.5(XPC):c.2033+1G>A rs764480429 0.00002
NM_000122.2(ERCC3):c.657+1G>A rs56116802 0.00001
NM_000123.4(ERCC5):c.2413G>A (p.Gly805Arg) rs899478069 0.00001
NM_000400.4(ERCC2):c.595-10G>A rs761737358 0.00001
NM_004628.5(XPC):c.1A>G (p.Met1Val) rs763678756 0.00001
NM_005236.3(ERCC4):c.1102+1G>T rs1314323456 0.00001
NC_000003.11:g.14187530_(14190449_14193834)del
NC_000006.11:g.(43550879_43555008)_(43565603_43568724)del
NC_000016.9:g.(14031716_14038579)_(14038693_14041470)del
NC_000019.9:g.(45858987_45860527)_(45868417_45871887)del
NM_000123.4(ERCC5):c.2427del (p.Asp809fs) rs777455688
NM_000123.4(ERCC5):c.2890del (p.Arg964fs)
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr) rs104894131
NM_000380.4(XPA):c.378T>G (p.Cys126Trp) rs1451780491
NM_000380.4(XPA):c.666dup (p.Val223fs) rs1554701103
NM_000380.4(XPA):c.673+1G>A rs2131393093
NM_000380.4(XPA):c.759dup (p.Asp254fs)
NM_000380.4(XPA):c.771_775del (p.Tyr257_Lys259delinsTer)
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_000400.4(ERCC2):c.1623C>G (p.Ser541Arg)
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
NM_000400.4(ERCC2):c.2141_2148del (p.Val714fs)
NM_000400.4(ERCC2):c.2190+1del rs1476160722
NM_004628.5(XPC):c.1660C>T (p.Gln554Ter) rs1696002966
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)
NM_004628.5(XPC):c.2595C>A (p.Tyr865Ter) rs370126012
NM_005236.3(ERCC4):c.1214-1G>A
NM_005236.3(ERCC4):c.303C>A (p.Tyr101Ter)

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