ClinVar Miner

List of variants reported as likely pathogenic for Xeroderma pigmentosum, group C

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Total variants: 39
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HGVS dbSNP
NM_004628.4(XPC):c.103+1G>A rs1423398589
NM_004628.4(XPC):c.103+2T>G rs1553608616
NM_004628.4(XPC):c.1143dup (p.Lys382fs) rs1553605871
NM_004628.4(XPC):c.1289_1293del (p.Ser429_Tyr430insTer) rs1553605813
NM_004628.4(XPC):c.1293_1294insT (p.Glu432Ter) rs1553605805
NM_004628.4(XPC):c.1326_1327CT[1] (p.Gly442_Ser443insTer) rs1553605795
NM_004628.4(XPC):c.1381G>T (p.Glu461Ter) rs754197041
NM_004628.4(XPC):c.1421dup (p.Arg475fs) rs1553605761
NM_004628.4(XPC):c.147del (p.Val51fs) rs1553607773
NM_004628.4(XPC):c.1564A>T (p.Lys522Ter) rs746250060
NM_004628.4(XPC):c.1686del (p.Thr563fs) rs1553605655
NM_004628.4(XPC):c.1748_1749AG[1] (p.Arg584fs) rs752030576
NM_004628.4(XPC):c.1934del (p.Pro645fs) rs1553605497
NM_004628.4(XPC):c.1A>G (p.Met1Val) rs763678756
NM_004628.4(XPC):c.1A>T (p.Met1Leu) rs763678756
NM_004628.4(XPC):c.2033+1G>A rs764480429
NM_004628.4(XPC):c.2074A>T (p.Lys692Ter) rs374117852
NM_004628.4(XPC):c.2101G>T (p.Glu701Ter) rs1553605023
NM_004628.4(XPC):c.2116-1G>A rs1553604620
NM_004628.4(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.4(XPC):c.2194dup (p.Leu732fs) rs1309116467
NM_004628.4(XPC):c.2218G>T (p.Glu740Ter) rs770308917
NM_004628.4(XPC):c.2251-2A>G rs1553604570
NM_004628.4(XPC):c.2317C>T (p.Gln773Ter) rs1281090187
NM_004628.4(XPC):c.2331dup (p.Asn778fs) rs1553604552
NM_004628.4(XPC):c.2336dup (p.His780fs) rs1553604549
NM_004628.4(XPC):c.299+1G>A rs1553607744
NM_004628.4(XPC):c.368del (p.Asn123fs) rs1553607419
NM_004628.4(XPC):c.409dup (p.Glu137fs) rs1208223013
NM_004628.4(XPC):c.515dup (p.Ala173fs) rs1553607144
NM_004628.4(XPC):c.537-1G>C rs1326646197
NM_004628.4(XPC):c.55C>T (p.Gln19Ter) rs1553608637
NM_004628.4(XPC):c.612_613CA[3] (p.His206fs) rs1553606979
NM_004628.4(XPC):c.622-2A>G rs201940931
NM_004628.4(XPC):c.779+1G>A rs975121308
NM_004628.4(XPC):c.779+1G>T rs975121308
NM_004628.4(XPC):c.915dup (p.Leu306fs) rs1553605973
NM_004628.4(XPC):c.958C>T (p.Gln320Ter) rs867461743
NM_004628.4(XPC):c.991-2A>G rs1553605894

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