ClinVar Miner

List of variants in gene PGAP3 reported as uncertain significance for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_033419.5(PGAP3):c.*559C>T rs183208638 0.00300
NM_033419.5(PGAP3):c.477G>C (p.Arg159Ser) rs150483675 0.00074
NM_033419.5(PGAP3):c.209A>T (p.Tyr70Phe) rs146132289 0.00006
NM_033419.5(PGAP3):c.856A>G (p.Ile286Val) rs760923040 0.00003
NM_033419.5(PGAP3):c.307C>G (p.Gln103Glu) rs900578977 0.00001
NM_033419.5(PGAP3):c.754C>T (p.His252Tyr) rs1440802425
NM_033419.5(PGAP3):c.850C>G (p.His284Asp)

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