ClinVar Miner

List of variants in gene TMEM43, XPC studied for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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NM_004628.4(XPC):c.*133G>A rs377250919
NM_004628.4(XPC):c.*192T>C rs3731178
NM_004628.4(XPC):c.*611T>A rs2470352
NM_004628.4(XPC):c.*618A>G rs2470458
NM_004628.4(XPC):c.*684G>C rs1126547
NM_004628.4(XPC):c.*96C>G rs2229090
NM_004628.4(XPC):c.2421-11T>C rs3731167
NM_004628.4(XPC):c.2815C>A (p.Gln939Lys) rs2228001
NM_024334.2(TMEM43):c.*115T>C rs1043943
NM_024334.2(TMEM43):c.*1160A>G rs9842062
NM_024334.2(TMEM43):c.*1374T>C rs8516
NM_024334.2(TMEM43):c.*1424T>C rs10468
NM_024334.2(TMEM43):c.*217G>A rs116757981
NM_024334.2(TMEM43):c.*277C>T rs11943
NM_024334.2(TMEM43):c.*312A>C rs11920099
NM_024334.2(TMEM43):c.*463A>G rs1043953
NM_024334.2(TMEM43):c.*719G>T rs3796308
NM_024334.2(TMEM43):c.*766_*770CAAAA[1] rs141474582
NM_024334.2(TMEM43):c.*779A>C rs13069
NM_024334.2(TMEM43):c.*924T>C rs79741000

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