ClinVar Miner

List of variants in gene ATP6AP2 reported as likely benign for ATP6AP2-related disorder

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
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.398G>A (p.Arg133Lys) rs560852897 0.00009
NM_005765.3(ATP6AP2):c.534+7G>A rs369876508 0.00009
NM_005765.3(ATP6AP2):c.397-13A>G rs369015249 0.00008
NM_005765.3(ATP6AP2):c.472C>T (p.Leu158=) rs372993268 0.00007
NM_005765.3(ATP6AP2):c.516T>C (p.Ser172=) rs775818303 0.00006
NM_005765.3(ATP6AP2):c.588+7A>G rs377112095 0.00006
NM_005765.3(ATP6AP2):c.822T>C (p.Ile274=) rs149902247 0.00006
NM_005765.3(ATP6AP2):c.120G>A (p.Glu40=) rs748408839 0.00004
NM_005765.3(ATP6AP2):c.859-11C>T rs767283025 0.00004
NM_005765.3(ATP6AP2):c.300+19A>C rs763279174 0.00003
NM_005765.3(ATP6AP2):c.444A>G (p.Ser148=) rs1173775262 0.00002
NM_005765.3(ATP6AP2):c.534+16C>T rs750200667 0.00002
NM_005765.3(ATP6AP2):c.535-14T>G rs769547935 0.00002
NM_005765.3(ATP6AP2):c.678T>C (p.Tyr226=) rs1386735381 0.00002
NM_005765.3(ATP6AP2):c.222T>G (p.Ala74=) rs771044157 0.00001
NM_005765.3(ATP6AP2):c.324T>C (p.Ser108=) rs772002758 0.00001
NM_005765.3(ATP6AP2):c.372T>G (p.Val124=) rs768335960 0.00001
NM_005765.3(ATP6AP2):c.38-13G>A rs374449836 0.00001
NM_005765.3(ATP6AP2):c.534+14T>A rs372642412 0.00001
NM_005765.3(ATP6AP2):c.534+8C>T rs753957171 0.00001
NM_005765.3(ATP6AP2):c.589-12T>C rs1382713000 0.00001
NM_005765.3(ATP6AP2):c.859-9A>G rs1226152622 0.00001
NM_005765.3(ATP6AP2):c.888A>G (p.Ala296=) rs764184906 0.00001
NM_005765.3(ATP6AP2):c.948C>T (p.Ala316=) rs968409596 0.00001
NM_005765.3(ATP6AP2):c.1008T>C (p.Asp336=)
NM_005765.3(ATP6AP2):c.168+15T>G
NM_005765.3(ATP6AP2):c.168+7A>G rs2146538326
NM_005765.3(ATP6AP2):c.192A>T (p.Ala64=)
NM_005765.3(ATP6AP2):c.225C>T (p.Thr75=)
NM_005765.3(ATP6AP2):c.252C>T (p.Asn84=)
NM_005765.3(ATP6AP2):c.285G>C (p.Ser95=) rs34217273
NM_005765.3(ATP6AP2):c.303A>G (p.Ala101=) rs770593270
NM_005765.3(ATP6AP2):c.397-16T>G
NM_005765.3(ATP6AP2):c.397-9T>A
NM_005765.3(ATP6AP2):c.411A>G (p.Val137=) rs2146542663
NM_005765.3(ATP6AP2):c.423C>T (p.Asn141=) rs1555977800
NM_005765.3(ATP6AP2):c.432T>C (p.Phe144=) rs1926803092
NM_005765.3(ATP6AP2):c.504C>T (p.Leu168=) rs2146542730
NM_005765.3(ATP6AP2):c.51C>T (p.Asn17=) rs371701957
NM_005765.3(ATP6AP2):c.534+10G>A
NM_005765.3(ATP6AP2):c.546C>T (p.Leu182=)
NM_005765.3(ATP6AP2):c.589-19G>A
NM_005765.3(ATP6AP2):c.589-6C>T
NM_005765.3(ATP6AP2):c.594T>G (p.Ser198=)
NM_005765.3(ATP6AP2):c.609A>G (p.Leu203=) rs2146543619
NM_005765.3(ATP6AP2):c.60T>C (p.Ser20=)
NM_005765.3(ATP6AP2):c.690T>C (p.Ser230=) rs1926856559
NM_005765.3(ATP6AP2):c.735A>G (p.Gln245=)
NM_005765.3(ATP6AP2):c.738+10A>T
NM_005765.3(ATP6AP2):c.738+15G>A rs777239225
NM_005765.3(ATP6AP2):c.738+8T>A rs2146543689
NM_005765.3(ATP6AP2):c.777A>G (p.Ala259=)
NM_005765.3(ATP6AP2):c.834G>A (p.Arg278=) rs2146544212
NM_005765.3(ATP6AP2):c.859-11C>G rs767283025
NM_005765.3(ATP6AP2):c.859-5T>C
NM_005765.3(ATP6AP2):c.891T>C (p.Tyr297=)
NM_005765.3(ATP6AP2):c.930A>G (p.Val310=)
NM_005765.3(ATP6AP2):c.945C>T (p.Ile315=)
NM_005765.3(ATP6AP2):c.954C>G (p.Ala318=)

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