ClinVar Miner

List of variants studied for Hyperphosphatasia with intellectual disability syndrome 6

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001042616.3(PIGY):c.151A>G (p.Ile51Val)	rs201457617	0.00017
NM_001042616.2(PIGY):c.-540G>A	rs869025323
NM_001042616.3(PIGY):c.-334C>T	rs1401283490
NM_001042616.3(PIGY):c.101G>A (p.Cys34Tyr)	rs1399588452
NM_001042616.3(PIGY):c.137T>C (p.Leu46Pro)	rs869025322

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