ClinVar Miner

List of variants reported as benign for hyperphosphatasia with intellectual disability syndrome 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_032634.4(PIGO):c.*41T>G rs556766 0.98454
NM_032634.4(PIGO):c.1119+7A>G rs568300 0.52243
NM_032634.4(PIGO):c.2004G>A (p.Leu668=) rs10814196 0.19210
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_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.2198G>A (p.Arg733Gln) rs373305585 0.00004

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