ClinVar Miner

List of variants reported as benign for hyperphosphatasia-intellectual disability syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_032634.4(PIGO):c.*41T>G rs556766 0.98454
NM_033419.5(PGAP3):c.900-10T>C rs2247862 0.63744
NM_033419.5(PGAP3):c.465T>C (p.Val155=) rs2941504 0.63491
NM_032634.4(PIGO):c.1119+7A>G rs568300 0.52243
NM_032634.4(PIGO):c.2004G>A (p.Leu668=) rs10814196 0.19210
NM_017837.4(PIGV):c.-338A>C rs113400508 0.05897
NM_017837.4(PIGV):c.*210A>G rs57189461 0.05712
NM_001346754.2(PIGW):c.376A>G (p.Asn126Asp) rs72818370 0.04955
NM_032634.4(PIGO):c.3114C>T (p.Leu1038=) rs2298314 0.02715
NM_032634.4(PIGO):c.1404A>C (p.Ala468=) rs35287398 0.01214
NM_032634.4(PIGO):c.423C>T (p.Gly141=) rs116248521 0.01090
NM_017837.4(PIGV):c.615C>T (p.Asn205=) rs34512715 0.00995
NM_001346754.2(PIGW):c.1020C>T (p.Ala340=) rs74323480 0.00953
NM_001346754.2(PIGW):c.705C>G (p.His235Gln) rs61755368 0.00885
NM_032634.4(PIGO):c.1120-15C>A rs77344591 0.00631
NM_032634.4(PIGO):c.2432G>A (p.Arg811Gln) rs75579358 0.00578
NM_032634.4(PIGO):c.1473G>C (p.Leu491=) rs76932500 0.00557
NM_032634.4(PIGO):c.2040G>C (p.Leu680=) rs41274877 0.00511
NM_017837.4(PIGV):c.101C>T (p.Pro34Leu) rs139246652 0.00505
NM_032634.4(PIGO):c.2268G>A (p.Ala756=) rs149171782 0.00310
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) rs142562923 0.00277
NM_017837.4(PIGV):c.*167G>A rs142176099 0.00264
NM_032634.4(PIGO):c.2166G>C (p.Ala722=) rs147101825 0.00143
NM_032634.4(PIGO):c.2124G>A (p.Leu708=) rs201657672 0.00095
NM_017837.4(PIGV):c.*149G>A rs3754360 0.00091
NM_001346754.2(PIGW):c.253G>A (p.Gly85Ser) rs117789606 0.00089
NM_032634.4(PIGO):c.2487G>T (p.Gly829=) rs763623508 0.00019
NM_032634.4(PIGO):c.2198G>A (p.Arg733Gln) rs373305585 0.00004
NM_001346754.2(PIGW):c.1030T>C (p.Leu344=)
NM_001346754.2(PIGW):c.21G>A (p.Lys7=)
NM_001346754.2(PIGW):c.309C>G (p.Cys103Trp)
NM_017837.4(PIGV):c.-333C>T rs118069986
NM_032634.4(PIGO):c.2520C>T (p.Leu840=) rs537796918
NM_032634.4(PIGO):c.2563A>G (p.Ile855Val)
NM_032634.4(PIGO):c.2854+8del rs756312077
NM_032634.4(PIGO):c.512-17C>T rs2240116
NM_032634.4(PIGO):c.714C>T (p.Gly238=) rs148186264

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