ClinVar Miner

List of variants studied for Autosomal recessive distal renal tubular acidosis

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Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_020632.3(ATP6V0A4):c.1573-86T>C rs1037692 0.74906
NM_020632.3(ATP6V0A4):c.1662C>T (p.Phe554=) rs1026435 0.69705
NM_020632.3(ATP6V0A4):c.5T>C (p.Val2Ala) rs10258719 0.69303
NM_020632.3(ATP6V0A4):c.722+79T>C rs296910 0.68266
NM_020632.3(ATP6V0A4):c.1812T>C (p.His604=) rs3807154 0.65254
NM_020632.3(ATP6V0A4):c.1478+45G>A rs55843107 0.33512
NM_020632.3(ATP6V0A4):c.1478+17A>G rs6467797 0.26043
NM_020632.3(ATP6V0A4):c.*239G>A rs8846 0.22481
NM_020632.3(ATP6V0A4):c.*162C>T rs55832008 0.09943
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153 0.09195
NM_020632.3(ATP6V0A4):c.1155C>T (p.Val385=) rs58568563 0.05118
NM_020632.3(ATP6V0A4):c.-25C>G rs35301422 0.04265
NM_020632.3(ATP6V0A4):c.1888G>A (p.Ala630Thr) rs73730479 0.03401
NM_020632.3(ATP6V0A4):c.*111C>A rs75920897 0.03190
NM_020632.3(ATP6V0A4):c.512+4A>G rs78194949 0.02390
NM_020632.3(ATP6V0A4):c.2306C>T (p.Thr769Met) rs61747678 0.01647
NM_020632.3(ATP6V0A4):c.2307G>A (p.Thr769=) rs61747677 0.01096
NM_020632.3(ATP6V0A4):c.417+14G>C rs141824671 0.01075
NM_020632.3(ATP6V0A4):c.-199C>T rs138299222 0.01070
NM_020632.3(ATP6V0A4):c.1641G>A (p.Leu547=) rs61747675 0.01050
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=) rs77328827 0.00942
NM_020632.3(ATP6V0A4):c.1557G>A (p.Pro519=) rs74921348 0.00694
NM_020632.3(ATP6V0A4):c.1033C>A (p.Leu345Ile) rs61747674 0.00612
NM_020632.3(ATP6V0A4):c.755C>G (p.Pro252Arg) rs61747681 0.00547
NM_020632.3(ATP6V0A4):c.2035G>T (p.Asp679Tyr) rs150777839 0.00506
NM_020632.3(ATP6V0A4):c.1848C>T (p.Phe616=) rs143883618 0.00500
NM_020632.3(ATP6V0A4):c.1181-4G>A rs189734354 0.00488
NM_020632.3(ATP6V0A4):c.*73C>T rs78419825 0.00354
NM_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=) rs6956646 0.00297
NM_020632.3(ATP6V0A4):c.-169C>T rs199654929 0.00229
NM_020632.3(ATP6V0A4):c.1573-3C>T rs182512951 0.00153
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.1956G>A (p.Pro652=) rs141411124 0.00060
NM_020632.3(ATP6V0A4):c.2140-9G>A rs201174170 0.00056
NM_020632.3(ATP6V0A4):c.1498A>G (p.Ser500Gly) rs142818468 0.00048
NM_020632.3(ATP6V0A4):c.2046G>C (p.Glu682Asp) rs147889261 0.00035
NM_020632.3(ATP6V0A4):c.-240C>G rs200591064 0.00030
NM_020632.3(ATP6V0A4):c.118-3T>A rs186717040 0.00026
NM_020632.3(ATP6V0A4):c.-248G>A rs373396667 0.00025
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.1740G>A (p.Met580Ile) rs150912912 0.00018
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.1893C>A (p.Pro631=) rs143558330 0.00012
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00011
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.834G>C (p.Glu278Asp) rs767146505 0.00009
NM_020632.3(ATP6V0A4):c.-15C>T rs761118342 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.1908+10C>A rs368166747 0.00005
NM_020632.3(ATP6V0A4):c.2192G>A (p.Cys731Tyr) rs142860146 0.00005
NM_020632.3(ATP6V0A4):c.945C>T (p.Asp315=) rs775519861 0.00005
NM_020632.3(ATP6V0A4):c.-206G>A rs746508351 0.00004
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val) rs571740084 0.00003
NM_020632.3(ATP6V0A4):c.*180G>T rs1047422453 0.00003
NM_020632.3(ATP6V0A4):c.-137C>T rs368646400 0.00003
NM_020632.3(ATP6V0A4):c.1466A>G (p.Asn489Ser) rs777210633 0.00003
NM_020632.3(ATP6V0A4):c.2113G>A (p.Gly705Arg) rs376273720 0.00003
NM_020632.3(ATP6V0A4):c.842G>A (p.Arg281His) rs532107577 0.00003
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675 0.00002
NM_020632.3(ATP6V0A4):c.1691+2dup rs753232747 0.00002
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter) rs754517968 0.00002
NM_020632.3(ATP6V0A4):c.264G>A (p.Pro88=) rs750420028 0.00002
NM_020632.3(ATP6V0A4):c.816+1G>A rs1450564765 0.00002
NM_020632.3(ATP6V0A4):c.970G>A (p.Glu324Lys) rs1293966606 0.00002
NM_020632.3(ATP6V0A4):c.-135G>A rs1347414244 0.00001
NM_020632.3(ATP6V0A4):c.-136C>T rs759971982 0.00001
NM_020632.3(ATP6V0A4):c.-281A>G rs369402164 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.2257+1G>A rs145809731 0.00001
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter) rs121908367 0.00001
NM_020632.3(ATP6V0A4):c.2260C>A (p.Leu754Met) rs886062012 0.00001
NM_020632.3(ATP6V0A4):c.2419C>T (p.Arg807Ter) rs769164245 0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) rs28939081 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.52C>T (p.Gln18Ter) rs1384393001 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.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.1755T>A (p.Cys585Ter) rs1584907924
NM_020632.3(ATP6V0A4):c.1904A>C (p.His635Pro) rs1554393418
NM_020632.3(ATP6V0A4):c.1908+12A>T rs1554393405
NM_020632.3(ATP6V0A4):c.2011-2A>T
NM_020632.3(ATP6V0A4):c.2139+1G>T
NM_020632.3(ATP6V0A4):c.2140-61_2257+166del rs1803996097
NM_020632.3(ATP6V0A4):c.2326G>C (p.Val776Leu) rs142313541
NM_020632.3(ATP6V0A4):c.243C>G (p.Leu81=) rs137955459
NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu) rs934266733
NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs) rs1584934951
NM_020632.3(ATP6V0A4):c.808T>A (p.Leu270Ile) rs538080700

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