ClinVar Miner

List of variants in gene TMEM43, XPC studied for Xeroderma pigmentosum

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.*684G>C rs1126547 0.88734
NM_024334.3(TMEM43):c.*115T>C rs1043943 0.65275
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001 0.64910
NM_004628.5(XPC):c.*96C>G rs2229090 0.22489
NM_024334.3(TMEM43):c.*779A>C rs13069 0.19544
NM_024334.3(TMEM43):c.*1424T>C rs10468 0.19535
NM_004628.5(XPC):c.*618A>G rs2470458 0.16965
NM_024334.3(TMEM43):c.*1374T>C rs8516 0.16359
NM_024334.3(TMEM43):c.*463A>G rs1043953 0.15711
NM_024334.3(TMEM43):c.*719G>T rs3796308 0.06070
NM_024334.3(TMEM43):c.*312A>C rs11920099 0.04223
NM_024334.3(TMEM43):c.*277C>T rs11943 0.02971
NM_024334.3(TMEM43):c.*217G>A rs116757981 0.02517
NM_024334.3(TMEM43):c.*924T>C rs79741000 0.02335
NM_004628.5(XPC):c.*192T>C rs3731178 0.01085
NM_024334.3(TMEM43):c.*1160A>G rs9842062 0.01011
NM_004628.5(XPC):c.2421-11T>C rs3731167 0.00070
NM_004628.5(XPC):c.*133G>A rs377250919 0.00004
NM_004628.5(XPC):c.*611T>A rs2470352
NM_024334.3(TMEM43):c.*766CAAAA[1] rs141474582

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