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

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Total variants: 38

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HGVS	dbSNP	gnomAD frequency
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)	rs374117852	0.00004
NM_004628.5(XPC):c.1A>G (p.Met1Val)	rs763678756	0.00001
NM_004628.5(XPC):c.779+1G>T	rs975121308	0.00001
NM_004628.5(XPC):c.103+1G>A	rs1423398589
NM_004628.5(XPC):c.103+2T>G	rs1553608616
NM_004628.5(XPC):c.1143dup (p.Lys382fs)	rs1553605871
NM_004628.5(XPC):c.1289_1293del (p.Ser429_Tyr430insTer)	rs1553605813
NM_004628.5(XPC):c.1293_1294insT (p.Glu432Ter)	rs1553605805
NM_004628.5(XPC):c.1328_1329del (p.Gly442_Ser443insTer)	rs1553605795
NM_004628.5(XPC):c.1381G>T (p.Glu461Ter)	rs754197041
NM_004628.5(XPC):c.1421dup (p.Arg475fs)	rs1553605761
NM_004628.5(XPC):c.147del (p.Val51fs)	rs1553607773
NM_004628.5(XPC):c.1564A>T (p.Lys522Ter)	rs746250060
NM_004628.5(XPC):c.1686del (p.Thr563fs)	rs1553605655
NM_004628.5(XPC):c.1750_1751del (p.Arg584fs)	rs752030576
NM_004628.5(XPC):c.1934del (p.Pro645fs)	rs1553605497
NM_004628.5(XPC):c.1A>T (p.Met1Leu)	rs763678756
NM_004628.5(XPC):c.2101G>T (p.Glu701Ter)	rs1553605023
NM_004628.5(XPC):c.2116-1G>A	rs1553604620
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)	rs754775337
NM_004628.5(XPC):c.2194dup (p.Leu732fs)	rs1309116467
NM_004628.5(XPC):c.2218G>T (p.Glu740Ter)	rs770308917
NM_004628.5(XPC):c.2251-2A>G	rs1553604570
NM_004628.5(XPC):c.2317C>T (p.Gln773Ter)	rs1281090187
NM_004628.5(XPC):c.2331dup (p.Asn778fs)	rs1553604552
NM_004628.5(XPC):c.2336dup (p.His780fs)	rs1553604549
NM_004628.5(XPC):c.299+1G>A	rs1553607744
NM_004628.5(XPC):c.368del (p.Asn123fs)	rs1553607419
NM_004628.5(XPC):c.409dup (p.Glu137fs)	rs1208223013
NM_004628.5(XPC):c.515dup (p.Ala173fs)	rs1553607144
NM_004628.5(XPC):c.537-1G>C	rs1326646197
NM_004628.5(XPC):c.55C>T (p.Gln19Ter)	rs1553608637
NM_004628.5(XPC):c.618_619del (p.His206fs)	rs1553606979
NM_004628.5(XPC):c.622-2A>G	rs201940931
NM_004628.5(XPC):c.779+1G>A	rs975121308
NM_004628.5(XPC):c.915dup (p.Leu306fs)	rs1553605973
NM_004628.5(XPC):c.958C>T (p.Gln320Ter)	rs867461743
NM_004628.5(XPC):c.991-2A>G	rs1553605894

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