ClinVar Miner

List of variants in gene ATP6AP2 reported by GeneDx

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_005765.3(ATP6AP2):c.534+45G>C rs3112299 0.91713
NM_005765.3(ATP6AP2):c.*266A>T rs5963816 0.14539
NM_005765.3(ATP6AP2):c.739-165A>C rs5963810 0.14512
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.534+230G>A rs116151990 0.03021
NM_005765.3(ATP6AP2):c.858+83A>T rs114591549 0.03005
NM_005765.3(ATP6AP2):c.588+260G>A rs57755052 0.02998
NM_005765.3(ATP6AP2):c.301-204A>T rs57869407 0.02988
NM_005765.3(ATP6AP2):c.301-206T>C rs57899511 0.02986
NM_005765.3(ATP6AP2):c.738+53C>T rs41298462 0.02329
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522 0.02009
NM_005765.3(ATP6AP2):c.859-150G>A rs116247900 0.01684
NM_005765.3(ATP6AP2):c.738+92T>C rs73463376 0.01678
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=) rs34217273 0.01468
NM_005765.3(ATP6AP2):c.534+191C>A rs141736428 0.01348
NM_005765.3(ATP6AP2):c.-35G>C rs111632930 0.01091
NM_005765.2(ATP6AP2):c.-157T>C rs183187874 0.01070
NM_005765.3(ATP6AP2):c.300+309G>C rs143698053 0.01043
NM_005765.3(ATP6AP2):c.301-295G>A rs112695938 0.01035
NM_005765.3(ATP6AP2):c.301-34A>T rs146546768 0.00607
NM_005765.3(ATP6AP2):c.535-312G>A rs763139936 0.00457
NM_005765.3(ATP6AP2):c.38-104G>A rs140986900 0.00406
NM_005765.3(ATP6AP2):c.-46C>A rs377597654 0.00253
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.217C>T (p.Arg73Trp) rs749401561 0.00013
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile) rs142013283 0.00011
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.588+7A>G rs377112095 0.00006
NM_005765.3(ATP6AP2):c.822T>C (p.Ile274=) rs149902247 0.00006
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.190G>A (p.Ala64Thr) rs910550834 0.00002
NM_005765.3(ATP6AP2):c.940A>T (p.Met314Leu) rs758003959 0.00002
NM_005765.3(ATP6AP2):c.-36C>T rs1057521485 0.00001
NM_005765.3(ATP6AP2):c.1011C>A (p.Ser337Arg) rs187617404 0.00001
NM_005765.3(ATP6AP2):c.222T>G (p.Ala74=) rs771044157 0.00001
NM_005765.3(ATP6AP2):c.284C>T (p.Ser95Leu) rs767631127 0.00001
NM_005765.3(ATP6AP2):c.596G>A (p.Arg199His) rs751433380 0.00001
NM_005765.3(ATP6AP2):c.92G>A (p.Arg31Gln) rs768989127 0.00001
NM_005765.2(ATP6AP2):c.-120G>C rs186401295
NM_005765.3(ATP6AP2):c.212G>A (p.Arg71His) rs1057523485
NM_005765.3(ATP6AP2):c.232G>T (p.Val78Leu) rs796052283
NM_005765.3(ATP6AP2):c.316C>A (p.Leu106Ile) rs2146542542
NM_005765.3(ATP6AP2):c.32T>C (p.Val11Ala) rs2146534497
NM_005765.3(ATP6AP2):c.38-281TTTG[3] rs72178914
NM_005765.3(ATP6AP2):c.385C>G (p.Pro129Ala) rs142175071
NM_005765.3(ATP6AP2):c.396+20T>C rs1602402155
NM_005765.3(ATP6AP2):c.449C>T (p.Thr150Ile) rs1555977804
NM_005765.3(ATP6AP2):c.50A>G (p.Asn17Ser) rs1926552105
NM_005765.3(ATP6AP2):c.534+10G>C rs758140053
NM_005765.3(ATP6AP2):c.534+169T>C rs5918007
NM_005765.3(ATP6AP2):c.535-14dup rs759090833
NM_005765.3(ATP6AP2):c.588+4A>G rs1057522649
NM_005765.3(ATP6AP2):c.66A>C (p.Leu22Phe)
NM_005765.3(ATP6AP2):c.739-7C>A rs2146544167
NM_005765.3(ATP6AP2):c.746A>G (p.Asp249Gly) rs2146544171
NM_005765.3(ATP6AP2):c.778G>A (p.Val260Met) rs796052284
NM_005765.3(ATP6AP2):c.835A>G (p.Thr279Ala) rs1926886551
NM_005765.3(ATP6AP2):c.838A>G (p.Ile280Val) rs2146544217
NM_005765.3(ATP6AP2):c.841C>T (p.Leu281Phe)
NM_005765.3(ATP6AP2):c.858+61_858+63dup rs10590549
NM_005765.3(ATP6AP2):c.858+62_858+63dup rs10590549
NM_005765.3(ATP6AP2):c.858+63dup rs10590549
NM_005765.3(ATP6AP2):c.967A>G (p.Ile323Val) rs1057522068

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