ClinVar Miner

List of variants in gene ATP6AP2 reported as benign for X-linked syndromic intellectual disability

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005765.3(ATP6AP2):c.534+45G>C rs3112299 0.91713
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) rs7691 0.11555
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522 0.02009
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=) rs34217273 0.01468
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503 0.00253
NM_005765.3(ATP6AP2):c.38-5T>C rs190477001 0.00243
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=) rs79790275 0.00141
NM_005765.3(ATP6AP2):c.357G>A (p.Glu119=) rs138952430 0.00005
NM_005765.3(ATP6AP2):c.132C>T (p.Asp44=)
NM_005765.3(ATP6AP2):c.534+10G>C rs758140053

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