ClinVar Miner

List of variants in gene ATP6AP2 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
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Gene type:
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Total variants: 17
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HGVS dbSNP
NM_005765.2(ATP6AP2):c.1050T>C (p.Asp350=) rs79790275
NM_005765.2(ATP6AP2):c.168+6T>A rs1057519331
NM_005765.2(ATP6AP2):c.189C>T (p.Leu63=) rs150392503
NM_005765.2(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014
NM_005765.2(ATP6AP2):c.285G>A (p.Ser95=) rs34217273
NM_005765.2(ATP6AP2):c.315T>G (p.Ser105Arg) rs745748841
NM_005765.2(ATP6AP2):c.321C>T (p.Asp107=) rs121918521
NM_005765.2(ATP6AP2):c.38-5T>C rs190477001
NM_005765.2(ATP6AP2):c.408G>A (p.Met136Ile) rs1555977799
NM_005765.2(ATP6AP2):c.423C>T (p.Asn141=) rs1555977800
NM_005765.2(ATP6AP2):c.490G>A (p.Val164Ile) rs142013283
NM_005765.2(ATP6AP2):c.596G>A (p.Arg199His) rs751433380
NM_005765.2(ATP6AP2):c.840C>G (p.Ile280Met) rs1555978066
NM_005765.2(ATP6AP2):c.858G>A (p.Ala286=) rs1555978069
NM_005765.2(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522
NM_005765.2(ATP6AP2):c.922A>C (p.Asn308His) rs756836341
NM_005765.2(ATP6AP2):c.953C>A (p.Ala318Asp) rs1555978614

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