ClinVar Miner

List of variants in gene combination PIGY, PYURF reported as uncertain significance for hyperphosphatasia-intellectual disability syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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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.-334C>T rs1401283490
NM_001042616.3(PIGY):c.101G>A (p.Cys34Tyr) rs1399588452

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