ClinVar Miner

List of variants studied for hereditary photodermatosis by Medical Molecular Genetics Department, National Research Center

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) rs1450238352 0.00002
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_000380.4(XPA):c.374del (p.Thr125fs) rs1828818571
NM_000380.4(XPA):c.553C>T (p.Gln185Ter) rs1828741490
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.1894C>T (p.Gln632Ter) rs3731139
NM_004628.5(XPC):c.2127del (p.Ser711fs) rs1695569595
NM_004628.5(XPC):c.395_398del (p.Asp132fs) rs1696563531
NM_004628.5(XPC):c.524_525dup (p.Arg176fs) rs1696466639
NM_004628.5(XPC):c.669_670del (p.Ile223fs) rs1696343406

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