ClinVar Miner

List of variants studied for hereditary photodermatosis by Hadassah Hebrew University Medical Center

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.1132C>T (p.Arg378Cys) rs186220206 0.00002
NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs) rs1586821679
NM_004628.5(XPC):c.470_471del (p.Leu157fs) rs1574972784

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