ClinVar Miner

List of variants in gene PIGY, PYURF studied for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001042616.3(PIGY):c.151A>G (p.Ile51Val) rs201457617 0.00018
NM_001042616.3(PIGY):c.101G>A (p.Cys34Tyr) rs1399588452
NM_001042616.3(PIGY):c.137T>C (p.Leu46Pro) rs869025322
NM_032906.5(PYURF):c.110C>T (p.Ala37Val) rs1401283490

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