ClinVar Miner

List of variants in gene XPC reported as pathogenic for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_004628.4(XPC):c.1001C>A (p.Pro334His) rs74737358
NM_004628.4(XPC):c.1103_1104del (p.Gln368fs) rs1450238352
NM_004628.4(XPC):c.1243C>T (p.Arg415Ter) rs757958943
NM_004628.4(XPC):c.128del (p.Pro43fs) rs1260189637
NM_004628.4(XPC):c.1292_1293del (p.Lys431fs) rs794729654
NM_004628.4(XPC):c.1639_1640TG[2] (p.Val548fs) rs754532049
NM_004628.4(XPC):c.1677C>A (p.Tyr559Ter) rs767569346
NM_004628.4(XPC):c.1735C>T (p.Arg579Ter) rs121965088
NM_004628.4(XPC):c.1872+1G>C rs1559374923
NM_004628.4(XPC):c.2033+2T>G rs794729655
NM_004628.4(XPC):c.2074A>T (p.Lys692Ter) rs374117852
NM_004628.4(XPC):c.2126_2129del (p.Gly709fs)
NM_004628.4(XPC):c.2251-1G>C rs754673606
NM_004628.4(XPC):c.2262del (p.Asn754fs) rs786205206
NM_004628.4(XPC):c.2287del (p.Leu763fs) rs1553604559
NM_004628.4(XPC):c.338_339AG[2] (p.Ala116fs) rs1228981894
NM_004628.4(XPC):c.413-24A>G rs794729657
NM_004628.4(XPC):c.413-9T>A rs794729656
NM_004628.4(XPC):c.420_423del (p.Glu141fs) rs1330667099
NM_004628.4(XPC):c.441_442GA[2] (p.Glu149fs) rs1402162002
NM_004628.4(XPC):c.463C>T (p.Arg155Ter) rs755825264
NM_004628.4(XPC):c.564_565AT[1] (p.Tyr189fs) rs752088918
NM_004628.4(XPC):c.621_622ins83 (p.?)
NM_004628.4(XPC):c.622-2A>C rs201940931
NM_004628.4(XPC):c.658C>T (p.Arg220Ter) rs745679643
NM_004628.4(XPC):c.739C>T (p.Arg247Ter) rs764321665
NM_004628.4(XPC):c.877C>T (p.Arg293Ter) rs373519125
XPC, 3-BP INS, GGT, CODON 580 AND LYS822GLN

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