ClinVar Miner

List of variants studied for DNA repair disease by Hadassah Hebrew University Medical Center

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018062.4(FANCL):c.641T>C (p.Leu214Pro) rs766618785 0.00002
NM_000400.4(ERCC2):c.1132C>T (p.Arg378Cys)
NM_004628.5(XPC):c.470_471del (p.Leu157fs) rs1574972784

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