ClinVar Miner

List of variants in gene ATP6AP2 studied for congenital disorder of glycosylation, type IIr

Included ClinVar conditions (2):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005765.3(ATP6AP2):c.534+45G>C rs3112299 0.91713
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.490G>A (p.Val164Ile) rs142013283 0.00011
NM_005765.3(ATP6AP2):c.122G>A (p.Arg41Gln) rs147857235 0.00002
NM_005765.3(ATP6AP2):c.1028C>G (p.Thr343Arg) rs2146547270
NM_005765.3(ATP6AP2):c.212G>A (p.Arg71His) rs1057523485
NM_005765.3(ATP6AP2):c.293T>C (p.Leu98Ser) rs1926621737
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=) rs1555978069

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