ClinVar Miner

List of variants in gene ATP6V0A2 studied for Cutis laxa with osteodystrophy

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Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_012463.4(ATP6V0A2):c.*1693C>G rs10846553 0.70633
NM_012463.4(ATP6V0A2):c.294+103T>C rs7301641 0.66968
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66838
NM_012463.4(ATP6V0A2):c.649-114T>G rs10744159 0.66563
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66560
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.66455
NM_012463.4(ATP6V0A2):c.*1128T>C rs10744162 0.53964
NM_012463.4(ATP6V0A2):c.*3425G>A rs2333834 0.53892
NM_012463.4(ATP6V0A2):c.*3553G>A rs73420351 0.09338
NM_012463.4(ATP6V0A2):c.*3603G>A rs73420352 0.05364
NM_012463.4(ATP6V0A2):c.*574C>T rs112521789 0.05337
NM_012463.4(ATP6V0A2):c.*3227C>G rs111540619 0.04013
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_012463.4(ATP6V0A2):c.*1600G>A rs58028686 0.02215
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02215
NM_012463.4(ATP6V0A2):c.*2877T>A rs77765053 0.02183
NM_012463.4(ATP6V0A2):c.*2357C>T rs117222175 0.02177
NM_012463.4(ATP6V0A2):c.*3235A>G rs7310965 0.02017
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_012463.4(ATP6V0A2):c.*1205C>G rs6488903 0.01582
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01218
NM_012463.4(ATP6V0A2):c.*2646A>G rs77292614 0.01186
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01097
NM_012463.4(ATP6V0A2):c.*2329G>A rs113118376 0.01080
NM_012463.4(ATP6V0A2):c.*3654A>G rs77670478 0.01013
NM_012463.4(ATP6V0A2):c.*1731C>T rs114514797 0.01010
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_012463.4(ATP6V0A2):c.*2875A>C rs149741581 0.00851
NM_012463.4(ATP6V0A2):c.*1645G>A rs74994957 0.00766
NM_012463.4(ATP6V0A2):c.*1837T>C rs115183932 0.00749
NM_012463.4(ATP6V0A2):c.*3357G>C rs7297473 0.00748
NM_012463.4(ATP6V0A2):c.*1064G>A rs7980215 0.00703
NM_012463.4(ATP6V0A2):c.*2710G>A rs145999411 0.00696
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00675
NM_012463.4(ATP6V0A2):c.*3000G>A rs183891010 0.00671
NM_012463.4(ATP6V0A2):c.*3665T>G rs2651 0.00616
NM_012463.4(ATP6V0A2):c.*191T>C rs150408179 0.00595
NM_012463.4(ATP6V0A2):c.*2876A>T rs191476665 0.00418
NM_012463.4(ATP6V0A2):c.*998T>C rs12298446 0.00401
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_012463.4(ATP6V0A2):c.*785T>C rs146660715 0.00242
NM_012463.4(ATP6V0A2):c.*2618A>G rs193208741 0.00155
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00148
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 0.00085
NM_012463.4(ATP6V0A2):c.1189+12G>T rs377235629 0.00082
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_012463.4(ATP6V0A2):c.*1122A>G rs3827881 0.00064
NM_012463.4(ATP6V0A2):c.*1599C>T rs534414817 0.00059
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974 0.00039
NM_012463.4(ATP6V0A2):c.*2759T>C rs550259483 0.00038
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284 0.00033
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.*2198C>T rs886049073 0.00024
NM_012463.4(ATP6V0A2):c.*2485C>T rs144043973 0.00023
NM_012463.4(ATP6V0A2):c.*271A>G rs886049064 0.00021
NM_012463.4(ATP6V0A2):c.*2833A>T rs117111955 0.00021
NM_012463.4(ATP6V0A2):c.*643C>T rs377386130 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.994G>A (p.Glu332Lys) rs144949442 0.00021
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) rs532258057 0.00019
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) rs2271659 0.00014
NM_012463.4(ATP6V0A2):c.*3505A>G rs868846588 0.00013
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) rs181112338 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.920C>G (p.Ala307Gly) rs752306671 0.00010
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) rs372416067 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.*742G>A rs964496583 0.00008
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) rs144946016 0.00008
NM_012463.4(ATP6V0A2):c.*1252A>G rs141136421 0.00007
NM_012463.4(ATP6V0A2):c.*3042T>G rs886049076 0.00007
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) rs762614200 0.00007
NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln) rs377561982 0.00007
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) rs199698721 0.00006
NM_012463.4(ATP6V0A2):c.*1799A>C rs755729836 0.00005
NM_012463.4(ATP6V0A2):c.*2085C>G rs185883563 0.00005
NM_012463.4(ATP6V0A2):c.*3269A>G rs567165258 0.00005
NM_012463.4(ATP6V0A2):c.*63C>T rs576086591 0.00005
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=) rs200933894 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.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.*575G>A rs996318859 0.00003
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=) rs147411055 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.*1680C>T rs886049067 0.00002
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) rs774276857 0.00002
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys) rs759593402 0.00002
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118 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.187C>T (p.Arg63Ter) rs80356750 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.2273C>T (p.Ala758Val) rs886049062 0.00001
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) rs80356758 0.00001
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992 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
ATP6V0A2, 1-BP INS, 100A
NM_012463.4(ATP6V0A2):c.*115C>T rs367543009
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.*2353G>T rs74386589
NM_012463.4(ATP6V0A2):c.*2771A>G rs1026356999
NM_012463.4(ATP6V0A2):c.*2782C>A rs183280767
NM_012463.4(ATP6V0A2):c.*3167G>A rs112529654
NM_012463.4(ATP6V0A2):c.*3368T>G rs1956822109
NM_012463.4(ATP6V0A2):c.*564T>C rs886049066
NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs) rs1956563926
NM_012463.4(ATP6V0A2):c.1046del (p.Ser349fs)
NM_012463.4(ATP6V0A2):c.1100C>G (p.Pro367Arg)
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter) rs80356755
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser) rs532258057
NM_012463.4(ATP6V0A2):c.1609T>C (p.Trp537Arg)
NM_012463.4(ATP6V0A2):c.2176-10TC[2] rs1593920665
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del rs367543007
NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs) rs1220385043
NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn) rs367543008
NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs) rs1566294545
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.294+1G>A rs80356751
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs) rs80356752
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer) rs1956462432
NM_012463.4(ATP6V0A2):c.732-23T>C rs2271660
NM_012463.4(ATP6V0A2):c.732-2A>G rs80356753
NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met) rs1956545181
NM_012463.4(ATP6V0A2):c.826-5C>T rs1593903077
NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs) rs80356754

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