ClinVar Miner

List of variants in gene ATP6AP2 studied for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 146
Download table as spreadsheet
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.463C>T (p.Arg155Cys) rs146371390 0.00018
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp) rs749401561 0.00013
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile) rs142013283 0.00011
NM_005765.3(ATP6AP2):c.539A>G (p.Asp180Gly) rs748977074 0.00011
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.922A>C (p.Asn308His) rs756836341 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.218G>A (p.Arg73Gln) rs138150013 0.00005
NM_005765.3(ATP6AP2):c.315T>G (p.Ser105Arg) rs745748841 0.00005
NM_005765.3(ATP6AP2):c.357G>A (p.Glu119=) rs138952430 0.00005
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.455G>A (p.Arg152His) rs184634552 0.00003
NM_005765.3(ATP6AP2):c.122G>A (p.Arg41Gln) rs147857235 0.00002
NM_005765.3(ATP6AP2):c.158C>T (p.Ser53Phe) rs759094089 0.00002
NM_005765.3(ATP6AP2):c.190G>A (p.Ala64Thr) rs910550834 0.00002
NM_005765.3(ATP6AP2):c.262C>G (p.Leu88Val) rs375148460 0.00002
NM_005765.3(ATP6AP2):c.444A>G (p.Ser148=) rs1173775262 0.00002
NM_005765.3(ATP6AP2):c.469C>T (p.Arg157Cys) rs138458908 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.106C>T (p.Pro36Ser) rs202105468 0.00001
NM_005765.3(ATP6AP2):c.160G>T (p.Val54Leu) rs767128351 0.00001
NM_005765.3(ATP6AP2):c.222T>G (p.Ala74=) rs771044157 0.00001
NM_005765.3(ATP6AP2):c.226G>A (p.Val76Ile) rs966044221 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.454C>T (p.Arg152Cys) rs745734335 0.00001
NM_005765.3(ATP6AP2):c.496A>T (p.Ser166Cys) rs760027081 0.00001
NM_005765.3(ATP6AP2):c.530A>G (p.Asn177Ser) rs377762605 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.589-3A>G rs370220088 0.00001
NM_005765.3(ATP6AP2):c.596G>A (p.Arg199His) rs751433380 0.00001
NM_005765.3(ATP6AP2):c.615G>C (p.Lys205Asn) rs1242256343 0.00001
NM_005765.3(ATP6AP2):c.673C>T (p.Arg225Cys) rs1158279990 0.00001
NM_005765.3(ATP6AP2):c.692A>T (p.Glu231Val) rs776952090 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
NC_000023.10:g.(?_40464793)_(40465007_?)dup
NC_000023.11:g.(?_40581046)_(40605775_?)dup
NM_005765.3(ATP6AP2):c.1008T>C (p.Asp336=)
NM_005765.3(ATP6AP2):c.1015A>G (p.Ile339Val) rs1927055441
NM_005765.3(ATP6AP2):c.127C>T (p.Pro43Ser)
NM_005765.3(ATP6AP2):c.132C>T (p.Asp44=)
NM_005765.3(ATP6AP2):c.168+15T>G
NM_005765.3(ATP6AP2):c.168+3A>G
NM_005765.3(ATP6AP2):c.168+6T>A rs1057519331
NM_005765.3(ATP6AP2):c.168+7A>G rs2146538326
NM_005765.3(ATP6AP2):c.169G>A (p.Asp57Asn)
NM_005765.3(ATP6AP2):c.176C>G (p.Ser59Cys)
NM_005765.3(ATP6AP2):c.192A>T (p.Ala64=)
NM_005765.3(ATP6AP2):c.209A>T (p.His70Leu) rs2146539439
NM_005765.3(ATP6AP2):c.225C>T (p.Thr75=)
NM_005765.3(ATP6AP2):c.232G>T (p.Val78Leu) rs796052283
NM_005765.3(ATP6AP2):c.252C>T (p.Asn84=)
NM_005765.3(ATP6AP2):c.259G>C (p.Ala87Pro) rs1926620037
NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn) rs1450455949
NM_005765.3(ATP6AP2):c.285G>C (p.Ser95=) rs34217273
NM_005765.3(ATP6AP2):c.289C>T (p.Pro97Ser) rs1926621605
NM_005765.3(ATP6AP2):c.301-11_301-10del rs1926795050
NM_005765.3(ATP6AP2):c.303A>G (p.Ala101=) rs770593270
NM_005765.3(ATP6AP2):c.315T>A (p.Ser105Arg)
NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=) rs121918521
NM_005765.3(ATP6AP2):c.323G>A (p.Ser108Asn)
NM_005765.3(ATP6AP2):c.328G>A (p.Ala110Thr)
NM_005765.3(ATP6AP2):c.340C>T (p.His114Tyr)
NM_005765.3(ATP6AP2):c.345C>T (p.Ser115=) rs397518480
NM_005765.3(ATP6AP2):c.351T>G (p.Phe117Leu)
NM_005765.3(ATP6AP2):c.365C>A (p.Pro122His)
NM_005765.3(ATP6AP2):c.365C>T (p.Pro122Leu)
NM_005765.3(ATP6AP2):c.375G>T (p.Leu125Phe)
NM_005765.3(ATP6AP2):c.397-16T>G
NM_005765.3(ATP6AP2):c.397-9T>A
NM_005765.3(ATP6AP2):c.408G>A (p.Met136Ile) rs1555977799
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.428T>C (p.Val143Ala) rs1926802970
NM_005765.3(ATP6AP2):c.432T>C (p.Phe144=) rs1926803092
NM_005765.3(ATP6AP2):c.448A>T (p.Thr150Ser) rs2146542684
NM_005765.3(ATP6AP2):c.47G>A (p.Gly16Glu) rs866274169
NM_005765.3(ATP6AP2):c.500C>T (p.Ser167Leu)
NM_005765.3(ATP6AP2):c.504C>T (p.Leu168=) rs2146542730
NM_005765.3(ATP6AP2):c.50A>G (p.Asn17Ser) rs1926552105
NM_005765.3(ATP6AP2):c.51C>T (p.Asn17=) rs371701957
NM_005765.3(ATP6AP2):c.529A>G (p.Asn177Asp)
NM_005765.3(ATP6AP2):c.534+10G>A
NM_005765.3(ATP6AP2):c.534+10G>C rs758140053
NM_005765.3(ATP6AP2):c.536T>C (p.Val179Ala) rs773037776
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.628G>T (p.Asp210Tyr) rs2146543631
NM_005765.3(ATP6AP2):c.690T>C (p.Ser230=) rs1926856559
NM_005765.3(ATP6AP2):c.724G>A (p.Asp242Asn) rs2146543666
NM_005765.3(ATP6AP2):c.727G>A (p.Ala243Thr)
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.739-5_739-4del
NM_005765.3(ATP6AP2):c.752T>C (p.Met251Thr) rs2146544175
NM_005765.3(ATP6AP2):c.766G>T (p.Gly256Cys)
NM_005765.3(ATP6AP2):c.775G>A (p.Ala259Thr)
NM_005765.3(ATP6AP2):c.777A>G (p.Ala259=)
NM_005765.3(ATP6AP2):c.811A>T (p.Thr271Ser)
NM_005765.3(ATP6AP2):c.834G>A (p.Arg278=) rs2146544212
NM_005765.3(ATP6AP2):c.840C>G (p.Ile280Met) rs1555978066
NM_005765.3(ATP6AP2):c.857C>T (p.Ala286Val)
NM_005765.3(ATP6AP2):c.858+4A>G
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=) rs1555978069
NM_005765.3(ATP6AP2):c.859-11C>G rs767283025
NM_005765.3(ATP6AP2):c.859-5T>C
NM_005765.3(ATP6AP2):c.878A>C (p.Tyr293Ser)
NM_005765.3(ATP6AP2):c.891T>C (p.Tyr297=)
NM_005765.3(ATP6AP2):c.913G>A (p.Val305Met)
NM_005765.3(ATP6AP2):c.930A>G (p.Val310=)
NM_005765.3(ATP6AP2):c.942G>A (p.Met314Ile) rs2146547241
NM_005765.3(ATP6AP2):c.945C>T (p.Ile315=)
NM_005765.3(ATP6AP2):c.946G>A (p.Ala316Thr)
NM_005765.3(ATP6AP2):c.953C>A (p.Ala318Asp) rs1555978614
NM_005765.3(ATP6AP2):c.954C>G (p.Ala318=)
NM_005765.3(ATP6AP2):c.961G>A (p.Val321Met) rs2146547252
NM_005765.3(ATP6AP2):c.979A>G (p.Asn327Asp)
NM_005765.3(ATP6AP2):c.98G>A (p.Gly33Glu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.