ClinVar Miner

List of variants in gene ATP6V0A2 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1167):
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Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_012463.4(ATP6V0A2):c.*2875A>C rs149741581 0.00851
NM_012463.4(ATP6V0A2):c.*191T>C rs150408179 0.00628
NM_012463.4(ATP6V0A2):c.*3665T>G rs2651 0.00616
NM_012463.4(ATP6V0A2):c.*2876A>T rs191476665 0.00418
NM_012463.4(ATP6V0A2):c.*2618A>G rs193208741 0.00155
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00150
NM_012463.4(ATP6V0A2):c.*2929C>G rs145602576 0.00111
NM_012463.4(ATP6V0A2):c.*1681G>A rs575925916 0.00089
NM_012463.4(ATP6V0A2):c.*577C>T rs577796265 0.00089
NM_012463.4(ATP6V0A2):c.1189+12G>T rs377235629 0.00085
NM_012463.4(ATP6V0A2):c.*1599C>T rs534414817 0.00059
NM_012463.4(ATP6V0A2):c.*2759T>C rs550259483 0.00038
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974 0.00037
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284 0.00036
NM_012463.4(ATP6V0A2):c.*2198C>T rs886049073 0.00026
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089 0.00026
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_012463.4(ATP6V0A2):c.*1803C>T rs117646592 0.00024
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys) rs144949442 0.00023
NM_012463.4(ATP6V0A2):c.*271A>G rs886049064 0.00021
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442 0.00021
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) rs140835376 0.00021
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) rs532258057 0.00019
NM_012463.4(ATP6V0A2):c.*2833A>T rs117111955 0.00013
NM_012463.4(ATP6V0A2):c.*3159G>A rs539564846 0.00012
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr) rs754727464 0.00012
NM_012463.4(ATP6V0A2):c.*3166C>T rs777687879 0.00011
NM_012463.4(ATP6V0A2):c.2505C>G (p.Thr835=) rs535703391 0.00011
NM_012463.4(ATP6V0A2):c.*1454A>G rs3748272 0.00010
NM_012463.4(ATP6V0A2):c.*3505A>G rs868846588 0.00010
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly) rs752306671 0.00010
NM_012463.4(ATP6V0A2):c.*3042T>G rs886049076 0.00009
NM_012463.4(ATP6V0A2):c.*742G>A rs964496583 0.00009
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=) rs182439983 0.00009
NM_012463.4(ATP6V0A2):c.*2454T>C rs776825961 0.00008
NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln) rs377561982 0.00008
NM_012463.4(ATP6V0A2):c.*1252A>G rs141136421 0.00006
NM_012463.4(ATP6V0A2):c.*1799A>C rs755729836 0.00006
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) rs199698721 0.00006
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His) rs758922111 0.00006
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) rs762614200 0.00006
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) rs181112338 0.00006
NM_012463.4(ATP6V0A2):c.*643C>T rs377386130 0.00005
NM_012463.4(ATP6V0A2):c.*1828C>G rs886049068 0.00004
NM_012463.4(ATP6V0A2):c.*709C>T rs547048918 0.00004
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) rs371908109 0.00004
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=) rs200933894 0.00004
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) rs563333869 0.00004
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) rs201247720 0.00004
NM_012463.4(ATP6V0A2):c.*2090C>T rs772018611 0.00003
NM_012463.4(ATP6V0A2):c.*3269A>G rs567165258 0.00003
NM_012463.4(ATP6V0A2):c.*575G>A rs996318859 0.00003
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) rs781305219 0.00003
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=) rs147411055 0.00003
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) rs372416067 0.00003
NM_012463.4(ATP6V0A2):c.1515-12T>G rs201512900 0.00003
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) rs747354658 0.00003
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg) rs774118423 0.00003
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118 0.00003
NM_012463.4(ATP6V0A2):c.*1680C>T rs886049067 0.00002
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) rs144946016 0.00002
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) rs774276857 0.00002
NM_012463.4(ATP6V0A2):c.*2039C>G rs886049069 0.00001
NM_012463.4(ATP6V0A2):c.*3262G>A rs1593929112 0.00001
NM_012463.4(ATP6V0A2):c.*3684C>T rs1051636200 0.00001
NM_012463.4(ATP6V0A2):c.*3707A>G rs1203316393 0.00001
NM_012463.4(ATP6V0A2):c.*434T>A rs886049065 0.00001
NM_012463.4(ATP6V0A2):c.*706T>G rs1288578795 0.00001
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) rs985944979 0.00001
NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys) rs148307049 0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) rs777130500 0.00001
NM_012463.4(ATP6V0A2):c.2176-5C>G rs201910056 0.00001
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) rs768609186 0.00001
NM_012463.4(ATP6V0A2):c.2542A>G (p.Lys848Glu) rs769901746 0.00001
NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu) rs775425809 0.00001
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) rs571403150 0.00001
NM_012463.4(ATP6V0A2):c.*1620T>A rs189881056
NM_012463.4(ATP6V0A2):c.*1950G>A rs1956794312
NM_012463.4(ATP6V0A2):c.*2161C>G rs886049071
NM_012463.4(ATP6V0A2):c.*2771A>G rs1026356999
NM_012463.4(ATP6V0A2):c.*2782C>A rs183280767
NM_012463.4(ATP6V0A2):c.*3368T>G rs1956822109
NM_012463.4(ATP6V0A2):c.*564T>C rs886049066
NM_012463.4(ATP6V0A2):c.*63C>T rs576086591
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser) rs532258057
NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met) rs139454557
NM_012463.4(ATP6V0A2):c.2176-10TC[2] rs1593920665
NM_012463.4(ATP6V0A2):c.2223G>C (p.Glu741Asp) rs780465961
NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val) rs886049062
NM_012463.4(ATP6V0A2):c.2412C>T (p.Ile804=) rs1414004996
NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr) rs2135923855
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His) rs143509747
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met) rs1956545181
NM_012463.4(ATP6V0A2):c.826-5C>T rs1593903077
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile) rs371533517

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