ClinVar Miner

List of variants studied for congenital limb malformation by Division of Human Genetics, Children's Hospital of Philadelphia

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_004247.4(EFTUD2):c.764dup (p.Cys256fs) rs794729651

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