ClinVar Miner

List of variants in gene ATP6V0A4 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_020632.3(ATP6V0A4):c.2403T>C (p.Ala801=) rs138627775 0.00136
NM_020632.3(ATP6V0A4):c.588C>T (p.Asn196=) rs144172463 0.00081
NM_020632.3(ATP6V0A4):c.419C>T (p.Thr140Met) rs144802156 0.00065
NM_020632.3(ATP6V0A4):c.-29G>A rs145258624 0.00062
NM_020632.3(ATP6V0A4):c.2140-9G>A rs201174170 0.00056
NM_020632.3(ATP6V0A4):c.2046G>C (p.Glu682Asp) rs147889261 0.00035
NM_020632.3(ATP6V0A4):c.881C>T (p.Ser294Phe) rs144697860 0.00027
NM_020632.3(ATP6V0A4):c.118-3T>A rs186717040 0.00026
NM_020632.3(ATP6V0A4):c.1977G>A (p.Pro659=) rs186997078 0.00024
NM_020632.3(ATP6V0A4):c.17G>A (p.Arg6Gln) rs147512254 0.00020
NM_020632.3(ATP6V0A4):c.1669A>T (p.Ile557Phe) rs147301634 0.00016
NM_020632.3(ATP6V0A4):c.492A>G (p.Ala164=) rs201044613 0.00014
NM_020632.3(ATP6V0A4):c.2412C>T (p.His804=) rs372230422 0.00013
NM_020632.3(ATP6V0A4):c.945C>T (p.Asp315=) rs775519861 0.00013
NM_020632.3(ATP6V0A4):c.1893C>A (p.Pro631=) rs143558330 0.00012
NM_020632.3(ATP6V0A4):c.1030-14T>A rs758945742 0.00011
NM_020632.3(ATP6V0A4):c.1189A>G (p.Thr397Ala) rs140896827 0.00009
NM_020632.3(ATP6V0A4):c.2129A>G (p.His710Arg) rs371213982 0.00009
NM_020632.3(ATP6V0A4):c.834G>C (p.Glu278Asp) rs767146505 0.00009
NM_020632.3(ATP6V0A4):c.-15C>T rs761118342 0.00008
NM_020632.3(ATP6V0A4):c.2296G>A (p.Gly766Ser) rs190792699 0.00008
NM_020632.3(ATP6V0A4):c.418-13C>G rs752531162 0.00008
NM_020632.3(ATP6V0A4):c.1002T>C (p.Arg334=) rs774810624 0.00007
NM_020632.3(ATP6V0A4):c.1385C>T (p.Thr462Met) rs368301208 0.00006
NM_020632.3(ATP6V0A4):c.790A>G (p.Asn264Asp) rs1386329721 0.00006
NM_020632.3(ATP6V0A4):c.812T>A (p.Ile271Asn) rs147475779 0.00006
NM_020632.3(ATP6V0A4):c.946G>A (p.Val316Ile) rs201744457 0.00006
NM_020632.3(ATP6V0A4):c.1792T>C (p.Trp598Arg) rs368553213 0.00005
NM_020632.3(ATP6V0A4):c.1908+10C>A rs368166747 0.00005
NM_020632.3(ATP6V0A4):c.2192G>A (p.Cys731Tyr) rs142860146 0.00005
NM_020632.3(ATP6V0A4):c.*180G>T rs1047422453 0.00003
NM_020632.3(ATP6V0A4):c.1466A>G (p.Asn489Ser) rs777210633 0.00003
NM_020632.3(ATP6V0A4):c.1740G>A (p.Met580Ile) rs150912912 0.00003
NM_020632.3(ATP6V0A4):c.2113G>A (p.Gly705Arg) rs376273720 0.00003
NM_020632.3(ATP6V0A4):c.2260C>A (p.Leu754Met) rs886062012 0.00003
NM_020632.3(ATP6V0A4):c.2471A>G (p.Lys824Arg) rs141194465 0.00003
NM_020632.3(ATP6V0A4):c.842G>A (p.Arg281His) rs532107577 0.00003
NM_020632.3(ATP6V0A4):c.2329G>A (p.Gly777Arg) rs767611310 0.00002
NM_020632.3(ATP6V0A4):c.264G>A (p.Pro88=) rs750420028 0.00002
NM_020632.3(ATP6V0A4):c.970G>A (p.Glu324Lys) rs1293966606 0.00002
NM_020632.3(ATP6V0A4):c.1029+4C>A rs745448000 0.00001
NM_020632.3(ATP6V0A4):c.1291C>T (p.Arg431Cys) rs370116072 0.00001
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930 0.00001
NM_020632.3(ATP6V0A4):c.1571C>T (p.Pro524Leu) rs121908368 0.00001
NM_020632.3(ATP6V0A4):c.1876G>T (p.Asp626Tyr) rs201399022 0.00001
NM_020632.3(ATP6V0A4):c.2429+15C>G rs375581031 0.00001
NM_020632.3(ATP6V0A4):c.292-3T>A rs370441093 0.00001
NM_020632.3(ATP6V0A4):c.954G>A (p.Gln318=) rs1806293958 0.00001
NM_020632.3(ATP6V0A4):c.*24T>A rs746571093
NM_020632.3(ATP6V0A4):c.-120-12C>G rs891150779
NM_020632.3(ATP6V0A4):c.1098T>C (p.Phe366=) rs886062013
NM_020632.3(ATP6V0A4):c.1238G>A (p.Gly413Asp)
NM_020632.3(ATP6V0A4):c.1333TTC[1] (p.Phe446del)
NM_020632.3(ATP6V0A4):c.1528C>A (p.Pro510Thr)
NM_020632.3(ATP6V0A4):c.1613C>T (p.Ser538Leu)
NM_020632.3(ATP6V0A4):c.1675A>T (p.Ser559Cys) rs369486474
NM_020632.3(ATP6V0A4):c.1703G>C (p.Arg568Thr) rs774244498
NM_020632.3(ATP6V0A4):c.1729del (p.Ile577fs) rs1562989815
NM_020632.3(ATP6V0A4):c.1733C>T (p.Pro578Leu) rs1805106046
NM_020632.3(ATP6V0A4):c.1904A>C (p.His635Pro) rs1554393418
NM_020632.3(ATP6V0A4):c.1908+12A>T rs1554393405
NM_020632.3(ATP6V0A4):c.196+4A>G
NM_020632.3(ATP6V0A4):c.1997A>G (p.His666Arg)
NM_020632.3(ATP6V0A4):c.1999C>T (p.Arg667Trp)
NM_020632.3(ATP6V0A4):c.2228G>T (p.Arg743Leu)
NM_020632.3(ATP6V0A4):c.2326G>C (p.Val776Leu) rs142313541
NM_020632.3(ATP6V0A4):c.2430-19G>A
NM_020632.3(ATP6V0A4):c.243C>G (p.Leu81=) rs137955459
NM_020632.3(ATP6V0A4):c.808T>A (p.Leu270Ile) rs538080700

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