ClinVar Miner

List of variants in gene combination TMEM43, XPC reported as likely benign for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
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.2421-11T>C rs3731167
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.*779A>C rs13069
NM_024334.2(TMEM43):c.*924T>C rs79741000

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