ClinVar Miner

List of variants studied for acidosis disorder

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 468
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HGVS dbSNP gnomAD frequency
NM_001098484.3(SLC4A4):c.2937+22C>T rs1453474 0.85968
NM_001098484.3(SLC4A4):c.2991C>T (p.His997=) rs1453458 0.85630
NM_001098484.3(SLC4A4):c.*2767A>G rs1043218 0.71793
NM_001098484.3(SLC4A4):c.*938G>C rs1062679 0.22831
NM_001098484.3(SLC4A4):c.*77A>C rs1062677 0.18093
NM_001098484.3(SLC4A4):c.*175del rs138389345 0.17341
NM_001098484.3(SLC4A4):c.2443-38G>A rs3733362 0.17313
NM_001098484.3(SLC4A4):c.253+47A>G rs4694388 0.16961
NM_001098484.3(SLC4A4):c.1904-74_1904-73insGGTT rs773069537 0.12949
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153 0.09195
NM_001098484.3(SLC4A4):c.*1377G>C rs3775157 0.06925
NM_001098484.3(SLC4A4):c.1014C>T (p.His338=) rs34373561 0.03058
NM_001098484.3(SLC4A4):c.*2028A>G rs72854478 0.02380
NM_001098484.3(SLC4A4):c.1683C>T (p.Ser561=) rs35169468 0.01254
NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=) rs16846517 0.01187
NM_020632.3(ATP6V0A4):c.417+14G>C rs141824671 0.01075
NM_001098484.3(SLC4A4):c.*2416A>G rs16846678 0.01010
NM_001098484.3(SLC4A4):c.*3106G>A rs114563047 0.00995
NM_001098484.3(SLC4A4):c.*272T>C rs142360815 0.00942
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=) rs77328827 0.00942
NM_001098484.3(SLC4A4):c.*1206A>G rs72854469 0.00833
NM_001098484.3(SLC4A4):c.*2428T>C rs114778480 0.00736
NM_020632.3(ATP6V0A4):c.816+19C>T rs80076422 0.00643
NM_001098484.3(SLC4A4):c.*2864G>A rs72854486 0.00630
NM_001098484.3(SLC4A4):c.*1220G>A rs72854471 0.00627
NM_001098484.3(SLC4A4):c.*2353C>G rs72854484 0.00624
NM_001098484.3(SLC4A4):c.*2329A>C rs72854481 0.00622
NM_001098484.3(SLC4A4):c.*1986G>A rs72854477 0.00620
NM_001098484.3(SLC4A4):c.*1665C>T rs72854473 0.00592
NM_001098484.3(SLC4A4):c.2272G>C (p.Glu758Gln) rs140846842 0.00528
NM_001098484.3(SLC4A4):c.*2152G>T rs151178899 0.00498
NM_001098484.3(SLC4A4):c.2764-2dup rs148961885 0.00498
NM_001098484.3(SLC4A4):c.*1003A>G rs41265675 0.00458
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=) rs34772799 0.00346
NM_001098484.3(SLC4A4):c.*3469A>G rs183839914 0.00317
NM_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=) rs6956646 0.00297
NM_001098484.3(SLC4A4):c.550+3A>G rs199790542 0.00289
NM_001098484.3(SLC4A4):c.*1228A>G rs116277651 0.00265
NM_001098484.3(SLC4A4):c.1805A>G (p.Lys602Arg) rs72650362 0.00264
NM_001098484.3(SLC4A4):c.1275C>T (p.His425=) rs114698511 0.00156
NM_001098484.3(SLC4A4):c.807+13T>G rs116455604 0.00154
NM_020632.3(ATP6V0A4):c.1573-3C>T rs182512951 0.00153
NM_001098484.3(SLC4A4):c.2311C>T (p.Pro771Ser) rs140882617 0.00151
NM_001098484.3(SLC4A4):c.2051A>T (p.Asn684Ile) rs35891845 0.00148
NM_001098484.3(SLC4A4):c.254-200T>C rs150718042 0.00144
NM_001098484.3(SLC4A4):c.*1467T>G rs181712084 0.00143
NM_001098484.3(SLC4A4):c.1271G>A (p.Gly424Asp) rs148635969 0.00135
NM_001098484.3(SLC4A4):c.1322+15C>T rs151292808 0.00130
NM_001098484.3(SLC4A4):c.520C>T (p.Arg174Trp) rs149802590 0.00111
NM_001098484.3(SLC4A4):c.678C>T (p.Asp226=) rs146394238 0.00110
NM_001098484.3(SLC4A4):c.1942G>A (p.Glu648Lys) rs145378038 0.00097
NM_001098484.3(SLC4A4):c.*1077C>A rs770869850 0.00092
NM_001098484.3(SLC4A4):c.*3994C>T rs144720176 0.00087
NM_001098484.3(SLC4A4):c.*3577A>G rs188350612 0.00086
NM_001098484.3(SLC4A4):c.687G>A (p.Lys229=) rs147651604 0.00079
NM_020632.3(ATP6V0A4):c.1806C>T (p.Asp602=) rs141568521 0.00070
NM_001098484.3(SLC4A4):c.1900C>T (p.Pro634Ser) rs150863118 0.00066
NM_020632.3(ATP6V0A4):c.419C>T (p.Thr140Met) rs144802156 0.00065
NM_020632.3(ATP6V0A4):c.2011-8G>A rs183571925 0.00061
NM_001098484.3(SLC4A4):c.2674T>C (p.Phe892Leu) rs138942006 0.00059
NM_001098484.3(SLC4A4):c.3099+15A>G rs576304574 0.00058
NM_001098484.3(SLC4A4):c.1361C>T (p.Ala454Val) rs138493429 0.00035
NM_020632.3(ATP6V0A4):c.2046G>C (p.Glu682Asp) rs147889261 0.00035
NM_001098484.3(SLC4A4):c.*3713T>G rs762831035 0.00032
NM_001098484.3(SLC4A4):c.1323G>A (p.Arg441=) rs200226048 0.00031
NM_001098484.3(SLC4A4):c.1260C>G (p.Pro420=) rs137982286 0.00030
NM_001098484.3(SLC4A4):c.942G>C (p.Leu314=) rs146008079 0.00030
NM_001098484.3(SLC4A4):c.390-11C>T rs201092552 0.00029
NM_001098484.3(SLC4A4):c.2485C>A (p.Leu829Ile) rs201643562 0.00028
NM_020632.3(ATP6V0A4):c.1030-18T>C rs769523748 0.00027
NM_020632.3(ATP6V0A4):c.881C>T (p.Ser294Phe) rs144697860 0.00027
NM_001098484.3(SLC4A4):c.*1822del rs567579582 0.00026
NM_001098484.3(SLC4A4):c.2010G>A (p.Ser670=) rs147661107 0.00026
NM_020632.3(ATP6V0A4):c.118-3T>A rs186717040 0.00026
NM_001098484.3(SLC4A4):c.2243T>C (p.Val748Ala) rs148889712 0.00024
NM_001098484.3(SLC4A4):c.3177C>T (p.Ser1059=) rs139191615 0.00023
NM_001098484.3(SLC4A4):c.*2975G>A rs554658080 0.00021
NM_001098484.3(SLC4A4):c.*2447A>G rs972565063 0.00020
NM_020632.3(ATP6V0A4):c.17G>A (p.Arg6Gln) rs147512254 0.00020
NM_001098484.3(SLC4A4):c.*1065A>C rs886059602 0.00019
NM_001098484.3(SLC4A4):c.*217A>G rs182103477 0.00019
NM_001098484.3(SLC4A4):c.*2995G>A rs1019870008 0.00019
NM_020632.3(ATP6V0A4):c.1740G>A (p.Met580Ile) rs150912912 0.00018
NM_001098484.3(SLC4A4):c.*734G>A rs768817613 0.00017
NM_001098484.3(SLC4A4):c.633G>A (p.Lys211=) rs145739451 0.00016
NM_001098484.3(SLC4A4):c.*1067A>G rs763542144 0.00015
NM_001098484.3(SLC4A4):c.*1202A>G rs367598789 0.00015
NM_001098484.3(SLC4A4):c.*4017C>T rs775900876 0.00015
NM_001098484.3(SLC4A4):c.*2819A>C rs886059613 0.00014
NM_001098484.3(SLC4A4):c.511A>G (p.Met171Val) rs139851720 0.00014
NM_001098484.3(SLC4A4):c.*1526C>A rs1028183538 0.00011
NM_001098484.3(SLC4A4):c.2925T>C (p.Ile975=) rs143924311 0.00011
NM_003759.4(SLC4A4):c.31A>G (p.Ser11Gly) rs545021444 0.00011
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00011
NM_020632.3(ATP6V0A4):c.1030-14T>A rs758945742 0.00011
NM_001098484.3(SLC4A4):c.*2365G>A rs886059612 0.00010
NM_003759.4(SLC4A4):c.70T>A (p.Phe24Ile) rs200944017 0.00010
NM_020632.3(ATP6V0A4):c.2458G>A (p.Gly820Arg) rs267606671 0.00010
NM_001098484.3(SLC4A4):c.*1761G>A rs886059607 0.00009
NM_001098484.3(SLC4A4):c.*3056A>G rs115315237 0.00009
NM_001098484.3(SLC4A4):c.3227A>G (p.His1076Arg) rs145013450 0.00009
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.97G>A (p.Gly33Arg) rs139370870 0.00009
NM_020632.3(ATP6V0A4):c.2296G>A (p.Gly766Ser) rs190792699 0.00008
NM_001098484.3(SLC4A4):c.*3802C>T rs751548567 0.00006
NM_001098484.3(SLC4A4):c.*761T>C rs576650368 0.00006
NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg) rs771339934 0.00006
NM_001098484.3(SLC4A4):c.2031C>T (p.Tyr677=) rs200126485 0.00006
NM_020632.3(ATP6V0A4):c.1385C>T (p.Thr462Met) rs368301208 0.00006
NM_020632.3(ATP6V0A4):c.1909-19C>T rs373949515 0.00006
NM_020632.3(ATP6V0A4):c.812T>A (p.Ile271Asn) rs147475779 0.00006
NM_001098484.3(SLC4A4):c.*1707A>G rs369867972 0.00005
NM_020632.3(ATP6V0A4):c.1792T>C (p.Trp598Arg) rs368553213 0.00005
NM_000183.3(HADHB):c.110-2324G>C rs764471823 0.00004
NM_001098484.3(SLC4A4):c.*1009A>G rs1344323489 0.00004
NM_001098484.3(SLC4A4):c.*1438C>T rs886059604 0.00004
NM_001098484.3(SLC4A4):c.*1945A>T rs375540927 0.00004
NM_001098484.3(SLC4A4):c.*1956T>C rs866386860 0.00004
NM_001098484.3(SLC4A4):c.*2346T>C rs369784676 0.00004
NM_001098484.3(SLC4A4):c.*3370C>T rs547564634 0.00004
NM_001098484.3(SLC4A4):c.*628T>G rs368650087 0.00004
NM_001098484.3(SLC4A4):c.2694+10T>A rs779558159 0.00004
NM_001098484.3(SLC4A4):c.2941T>C (p.Leu981=) rs147261946 0.00004
NM_020632.3(ATP6V0A4):c.1249G>A (p.Val417Met) rs530406140 0.00004
NM_020632.3(ATP6V0A4):c.1478+2T>G rs766587351 0.00004
NM_020632.3(ATP6V0A4):c.1681T>A (p.Phe561Ile) rs764911849 0.00004
NM_001098484.3(SLC4A4):c.*2916A>G rs886059614 0.00003
NM_001098484.3(SLC4A4):c.2040C>A (p.Asn680Lys) rs201133749 0.00003
NM_020632.3(ATP6V0A4):c.1345C>T (p.Arg449Cys) rs370861594 0.00003
NM_020632.3(ATP6V0A4):c.1466A>G (p.Asn489Ser) rs777210633 0.00003
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs) rs1252623454 0.00003
NM_020632.3(ATP6V0A4):c.2113G>A (p.Gly705Arg) rs376273720 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_001098484.3(SLC4A4):c.*1509A>G rs1324268886 0.00002
NM_001098484.3(SLC4A4):c.*3702T>C rs1001169644 0.00002
NM_001098484.3(SLC4A4):c.1638T>C (p.Asn546=) rs143082796 0.00002
NM_001098484.3(SLC4A4):c.3100-3C>T rs886059598 0.00002
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.2329G>A (p.Gly777Arg) rs767611310 0.00002
NM_020632.3(ATP6V0A4):c.417+8C>T rs767661194 0.00002
NM_020632.3(ATP6V0A4):c.427A>G (p.Asn143Asp) rs778873408 0.00002
NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile) rs747337202 0.00001
NM_001098484.3(SLC4A4):c.*1184T>C rs1578205840 0.00001
NM_001098484.3(SLC4A4):c.*1407A>C rs886059603 0.00001
NM_001098484.3(SLC4A4):c.*1536T>G rs192465453 0.00001
NM_001098484.3(SLC4A4):c.*1627A>T rs1465519762 0.00001
NM_001098484.3(SLC4A4):c.*2002C>A rs886059609 0.00001
NM_001098484.3(SLC4A4):c.*2172A>G rs1196015939 0.00001
NM_001098484.3(SLC4A4):c.*2863C>T rs953855379 0.00001
NM_001098484.3(SLC4A4):c.*286A>G rs531414310 0.00001
NM_001098484.3(SLC4A4):c.*3712T>C rs886059617 0.00001
NM_001098484.3(SLC4A4):c.*4028A>G rs565713938 0.00001
NM_001098484.3(SLC4A4):c.*695C>G rs1737689045 0.00001
NM_001098484.3(SLC4A4):c.*708C>A rs886059600 0.00001
NM_001098484.3(SLC4A4):c.1257G>A (p.Thr419=) rs201149572 0.00001
NM_001098484.3(SLC4A4):c.1661G>A (p.Arg554His) rs121908857 0.00001
NM_001098484.3(SLC4A4):c.2503C>T (p.Leu835Phe) rs202236628 0.00001
NM_001098484.3(SLC4A4):c.3213A>G (p.Thr1071=) rs770868684 0.00001
NM_001098484.3(SLC4A4):c.329C>T (p.Thr110Met) rs748205618 0.00001
NM_001098484.3(SLC4A4):c.742A>G (p.Met248Val) rs772360411 0.00001
NM_001098484.3(SLC4A4):c.965+11C>T rs550285672 0.00001
NM_001692.4(ATP6V1B1):c.79C>T (p.Gln27Ter) rs1288346981 0.00001
NM_020632.3(ATP6V0A4):c.1029+4C>A rs745448000 0.00001
NM_020632.3(ATP6V0A4):c.102G>C (p.Leu34Phe) rs1173300423 0.00001
NM_020632.3(ATP6V0A4):c.118-10G>A rs191616896 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.1572G>A (p.Pro524=) rs773840097 0.00001
NM_020632.3(ATP6V0A4):c.1593C>G (p.Asn531Lys) rs1445192708 0.00001
NM_020632.3(ATP6V0A4):c.1691+1G>A rs587776615 0.00001
NM_020632.3(ATP6V0A4):c.16C>T (p.Arg6Ter) rs769417807 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.2419C>T (p.Arg807Ter) rs769164245 0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) rs28939081 0.00001
NM_020632.3(ATP6V0A4):c.52C>T (p.Gln18Ter) rs1384393001 0.00001
NM_020632.3(ATP6V0A4):c.77T>C (p.Val26Ala) rs1444710096 0.00001
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg) rs878853002
NM_000342.4(SLC4A1):c.2385G>A (p.Met795Ile) rs2047339489
NM_001098484.3(SLC4A4):c.*1028A>G rs867289166
NM_001098484.3(SLC4A4):c.*1450C>T rs886059605
NM_001098484.3(SLC4A4):c.*1617C>A rs886059606
NM_001098484.3(SLC4A4):c.*1821del rs886059608
NM_001098484.3(SLC4A4):c.*206G>A
NM_001098484.3(SLC4A4):c.*2126A>G rs1737801354
NM_001098484.3(SLC4A4):c.*2184C>T rs886059610
NM_001098484.3(SLC4A4):c.*2281dup rs569665634
NM_001098484.3(SLC4A4):c.*26G>A rs200777620
NM_001098484.3(SLC4A4):c.*26G>T rs200777620
NM_001098484.3(SLC4A4):c.*3016T>C rs1737886382
NM_001098484.3(SLC4A4):c.*3080T>C rs886059615
NM_001098484.3(SLC4A4):c.*3574A>G rs1737924001
NM_001098484.3(SLC4A4):c.*3615C>T rs886059616
NM_001098484.3(SLC4A4):c.*3747G>A rs886059618
NM_001098484.3(SLC4A4):c.*411G>C rs1453452
NM_001098484.3(SLC4A4):c.*517G>A rs886059599
NM_001098484.3(SLC4A4):c.*552A>C rs553403475
NM_001098484.3(SLC4A4):c.*58del rs796456055
NM_001098484.3(SLC4A4):c.*748T>C rs1217826942
NM_001098484.3(SLC4A4):c.*815C>T rs886059601
NM_001098484.3(SLC4A4):c.*880T>A rs748345541
NM_001098484.3(SLC4A4):c.*989T>A rs34921070
NM_001098484.3(SLC4A4):c.*989T>C rs34921070
NM_001098484.3(SLC4A4):c.1026A>C (p.Arg342Ser) rs121908856
NM_001098484.3(SLC4A4):c.1096C>A (p.Leu366Met)
NM_001098484.3(SLC4A4):c.1132A>C (p.Ile378Leu) rs886059595
NM_001098484.3(SLC4A4):c.1170G>C (p.Arg390Ser)
NM_001098484.3(SLC4A4):c.1208+4A>C
NM_001098484.3(SLC4A4):c.1209-14G>A
NM_001098484.3(SLC4A4):c.1226G>C (p.Gly409Ala)
NM_001098484.3(SLC4A4):c.1235A>G (p.Asn412Ser) rs886059596
NM_001098484.3(SLC4A4):c.1238T>C (p.Val413Ala)
NM_001098484.3(SLC4A4):c.1262A>G (p.His421Arg)
NM_001098484.3(SLC4A4):c.1287A>T (p.Gly429=)
NM_001098484.3(SLC4A4):c.1289A>G (p.His430Arg)
NM_001098484.3(SLC4A4):c.1318G>A (p.Gly440Arg)
NM_001098484.3(SLC4A4):c.1321C>A (p.Arg441=)
NM_001098484.3(SLC4A4):c.1321C>T (p.Arg441Trp)
NM_001098484.3(SLC4A4):c.1322+5C>T
NM_001098484.3(SLC4A4):c.1360G>A (p.Ala454Thr)
NM_001098484.3(SLC4A4):c.1412C>T (p.Ser471Leu)
NM_001098484.3(SLC4A4):c.1481C>T (p.Ala494Val)
NM_001098484.3(SLC4A4):c.1500C>T (p.Gly500=)
NM_001098484.3(SLC4A4):c.1579del (p.Ser527fs)
NM_001098484.3(SLC4A4):c.1588G>A (p.Gly530Arg)
NM_001098484.3(SLC4A4):c.160A>T (p.Lys54Ter)
NM_001098484.3(SLC4A4):c.1635C>A (p.Asp545Glu)
NM_001098484.3(SLC4A4):c.1757A>G (p.Glu586Gly)
NM_001098484.3(SLC4A4):c.1768T>A (p.Ser590Thr)
NM_001098484.3(SLC4A4):c.1813A>T (p.Ile605Phe)
NM_001098484.3(SLC4A4):c.1815C>G (p.Ile605Met)
NM_001098484.3(SLC4A4):c.1818G>A (p.Lys606=)
NM_001098484.3(SLC4A4):c.1834C>T (p.Pro612Ser)
NM_001098484.3(SLC4A4):c.1860C>T (p.Gly620=)
NM_001098484.3(SLC4A4):c.1865A>G (p.Asn622Ser)
NM_001098484.3(SLC4A4):c.1899C>T (p.Asp633=)
NM_001098484.3(SLC4A4):c.1903+17T>G
NM_001098484.3(SLC4A4):c.1903+2T>A
NM_001098484.3(SLC4A4):c.1904-74_1904-73del rs747897537
NM_001098484.3(SLC4A4):c.194C>T (p.Ser65Phe)
NM_001098484.3(SLC4A4):c.1999G>A (p.Ala667Thr)
NM_001098484.3(SLC4A4):c.2047G>A (p.Gly683Arg)
NM_001098484.3(SLC4A4):c.2054A>G (p.Asn685Ser)
NM_001098484.3(SLC4A4):c.2060A>G (p.Asn687Ser)
NM_001098484.3(SLC4A4):c.2063T>C (p.Phe688Ser)
NM_001098484.3(SLC4A4):c.2075T>G (p.Ile692Ser)
NM_001098484.3(SLC4A4):c.2149C>T (p.Pro717Ser)
NM_001098484.3(SLC4A4):c.2231C>T (p.Ala744Val)
NM_001098484.3(SLC4A4):c.2241C>A (p.Gly747=) rs145593845
NM_001098484.3(SLC4A4):c.2241C>T (p.Gly747=)
NM_001098484.3(SLC4A4):c.2242G>A (p.Val748Met)
NM_001098484.3(SLC4A4):c.2294del (p.Asn765fs)
NM_001098484.3(SLC4A4):c.2308G>T (p.Val770Phe)
NM_001098484.3(SLC4A4):c.2315C>T (p.Pro772Leu)
NM_001098484.3(SLC4A4):c.2377A>C (p.Ile793Leu)
NM_001098484.3(SLC4A4):c.2416G>A (p.Val806Ile)
NM_001098484.3(SLC4A4):c.2449G>A (p.Ala817Thr)
NM_001098484.3(SLC4A4):c.2494A>G (p.Ile832Val)
NM_001098484.3(SLC4A4):c.2534C>T (p.Thr845Met)
NM_001098484.3(SLC4A4):c.254-187G>A rs1728681523
NM_001098484.3(SLC4A4):c.2547T>G (p.Ile849Met) rs1735529581
NM_001098484.3(SLC4A4):c.2557G>A (p.Asp853Asn)
NM_001098484.3(SLC4A4):c.259C>T (p.Pro87Ser)
NM_001098484.3(SLC4A4):c.2612T>G (p.Leu871Arg) rs1735535325
NM_001098484.3(SLC4A4):c.2695-15T>G
NM_001098484.3(SLC4A4):c.270A>T (p.Glu90Asp)
NM_001098484.3(SLC4A4):c.271C>T (p.Arg91Cys)
NM_001098484.3(SLC4A4):c.2774G>A (p.Arg925His) rs1736599400
NM_001098484.3(SLC4A4):c.277C>T (p.Arg93Ter)
NM_001098484.3(SLC4A4):c.2790G>C (p.Leu930=)
NM_001098484.3(SLC4A4):c.2842C>T (p.Arg948Cys)
NM_001098484.3(SLC4A4):c.2881C>G (p.Leu961Val)
NM_001098484.3(SLC4A4):c.2899C>T (p.Leu967Phe)
NM_001098484.3(SLC4A4):c.290G>A (p.Gly97Glu) rs781030949
NM_001098484.3(SLC4A4):c.2951T>C (p.Val984Ala)
NM_001098484.3(SLC4A4):c.3064AAG[2] (p.Lys1024del)
NM_001098484.3(SLC4A4):c.3091A>T (p.Asn1031Tyr)
NM_001098484.3(SLC4A4):c.3100-18T>G
NM_001098484.3(SLC4A4):c.3119A>C (p.Glu1040Ala)
NM_001098484.3(SLC4A4):c.313C>G (p.Pro105Ala)
NM_001098484.3(SLC4A4):c.3167C>T (p.Pro1056Leu)
NM_001098484.3(SLC4A4):c.317C>A (p.Pro106His)
NM_001098484.3(SLC4A4):c.3187C>A (p.Pro1063Thr)
NM_001098484.3(SLC4A4):c.3204A>T (p.Arg1068Ser)
NM_001098484.3(SLC4A4):c.3212C>A (p.Thr1071Lys)
NM_001098484.3(SLC4A4):c.3217C>T (p.Leu1073Phe)
NM_001098484.3(SLC4A4):c.3223C>T (p.Arg1075Cys)
NM_001098484.3(SLC4A4):c.3226C>T (p.His1076Tyr) rs1737540024
NM_001098484.3(SLC4A4):c.362A>G (p.Gln121Arg)
NM_001098484.3(SLC4A4):c.389+6G>T
NM_001098484.3(SLC4A4):c.390-5C>T rs181184794
NM_001098484.3(SLC4A4):c.509T>C (p.Ile170Thr)
NM_001098484.3(SLC4A4):c.535C>G (p.Leu179Val)
NM_001098484.3(SLC4A4):c.565C>T (p.His189Tyr)
NM_001098484.3(SLC4A4):c.598C>T (p.Leu200Phe)
NM_001098484.3(SLC4A4):c.698G>A (p.Ser233Asn)
NM_001098484.3(SLC4A4):c.722C>T (p.Pro241Leu)
NM_001098484.3(SLC4A4):c.72A>G (p.Glu24=)
NM_001098484.3(SLC4A4):c.730+6G>T
NM_001098484.3(SLC4A4):c.731G>A (p.Gly244Asp)
NM_001098484.3(SLC4A4):c.74-5C>G
NM_001098484.3(SLC4A4):c.770G>T (p.Ser257Ile)
NM_001098484.3(SLC4A4):c.794C>T (p.Pro265Leu)
NM_001098484.3(SLC4A4):c.808-4G>T rs886059594
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs) rs1553913019
NM_001098484.3(SLC4A4):c.839G>A (p.Arg280His)
NM_001098484.3(SLC4A4):c.853del (p.Ser285fs)
NM_001098484.3(SLC4A4):c.898A>G (p.Ile300Val)
NM_001098484.3(SLC4A4):c.915A>G (p.Leu305=) rs776706481
NM_001098484.3(SLC4A4):c.979C>T (p.Leu327Phe)
NM_001128831.4(CA1):c.368_369del (p.His123fs) rs768769200
NM_001692.4(ATP6V1B1):c.1181G>A (p.Arg394Gln) rs1680670309
NM_001692.4(ATP6V1B1):c.403A>T (p.Lys135Ter)
NM_003759.4(SLC4A4):c.41G>A (p.Gly14Glu)
NM_003759.4(SLC4A4):c.55G>T (p.Ala19Ser)
NM_003759.4(SLC4A4):c.59G>A (p.Arg20Gln)
NM_003759.4(SLC4A4):c.85C>T (p.Gln29Ter) rs121908858
NM_020632.3(ATP6V0A4):c.1000C>T (p.Arg334Cys)
NM_020632.3(ATP6V0A4):c.1001G>A (p.Arg334His)
NM_020632.3(ATP6V0A4):c.1030-2A>C
NM_020632.3(ATP6V0A4):c.103G>A (p.Val35Ile)
NM_020632.3(ATP6V0A4):c.1043C>G (p.Ser348Cys)
NM_020632.3(ATP6V0A4):c.105del (p.Gln36fs) rs587776616
NM_020632.3(ATP6V0A4):c.1069G>A (p.Val357Met)
NM_020632.3(ATP6V0A4):c.107A>G (p.Gln36Arg)
NM_020632.3(ATP6V0A4):c.109T>A (p.Phe37Ile)
NM_020632.3(ATP6V0A4):c.1137T>G (p.Ile379Met)
NM_020632.3(ATP6V0A4):c.1145C>T (p.Ala382Val)
NM_020632.3(ATP6V0A4):c.1181-14T>A
NM_020632.3(ATP6V0A4):c.1181-1G>A
NM_020632.3(ATP6V0A4):c.1181-9C>T
NM_020632.3(ATP6V0A4):c.1183C>T (p.Pro395Ser)
NM_020632.3(ATP6V0A4):c.1187dup (p.Tyr396Ter)
NM_020632.3(ATP6V0A4):c.1206del (p.Phe403fs)
NM_020632.3(ATP6V0A4):c.1216G>C (p.Ala406Pro)
NM_020632.3(ATP6V0A4):c.1238G>A (p.Gly413Asp)
NM_020632.3(ATP6V0A4):c.1248C>G (p.Thr416=)
NM_020632.3(ATP6V0A4):c.1271G>A (p.Trp424Ter)
NM_020632.3(ATP6V0A4):c.1275G>A (p.Met425Ile)
NM_020632.3(ATP6V0A4):c.1292G>T (p.Arg431Leu)
NM_020632.3(ATP6V0A4):c.1316A>T (p.Asn439Ile)
NM_020632.3(ATP6V0A4):c.1320+3G>T
NM_020632.3(ATP6V0A4):c.1321A>T (p.Ile441Phe)
NM_020632.3(ATP6V0A4):c.1327A>T (p.Asn443Tyr)
NM_020632.3(ATP6V0A4):c.1333TTC[1] (p.Phe446del)
NM_020632.3(ATP6V0A4):c.1342G>C (p.Gly448Arg)
NM_020632.3(ATP6V0A4):c.1346G>T (p.Arg449Leu)
NM_020632.3(ATP6V0A4):c.1384A>C (p.Thr462Pro)
NM_020632.3(ATP6V0A4):c.1404C>T (p.Asp468=)
NM_020632.3(ATP6V0A4):c.1418C>T (p.Ser473Phe)
NM_020632.3(ATP6V0A4):c.1453C>T (p.Pro485Ser)
NM_020632.3(ATP6V0A4):c.1478+2T>A
NM_020632.3(ATP6V0A4):c.1479-1G>A
NM_020632.3(ATP6V0A4):c.1490T>C (p.Met497Thr)
NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter) rs121908369
NM_020632.3(ATP6V0A4):c.1510C>T (p.Gln504Ter)
NM_020632.3(ATP6V0A4):c.1528C>A (p.Pro510Thr)
NM_020632.3(ATP6V0A4):c.1531G>T (p.Gly511Ter)
NM_020632.3(ATP6V0A4):c.1572+2T>C
NM_020632.3(ATP6V0A4):c.1573-1G>T
NM_020632.3(ATP6V0A4):c.1576T>A (p.Trp526Arg)
NM_020632.3(ATP6V0A4):c.1585G>C (p.Ala529Pro)
NM_020632.3(ATP6V0A4):c.1613C>T (p.Ser538Leu)
NM_020632.3(ATP6V0A4):c.1675A>T (p.Ser559Cys) rs369486474
NM_020632.3(ATP6V0A4):c.1688A>T (p.His563Leu)
NM_020632.3(ATP6V0A4):c.1691+2T>G
NM_020632.3(ATP6V0A4):c.1692-7C>A
NM_020632.3(ATP6V0A4):c.1700G>A (p.Arg567Lys)
NM_020632.3(ATP6V0A4):c.1703G>C (p.Arg568Thr) rs774244498
NM_020632.3(ATP6V0A4):c.1708C>T (p.Leu570Phe)
NM_020632.3(ATP6V0A4):c.173G>A (p.Cys58Tyr)
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter) rs1584907924
NM_020632.3(ATP6V0A4):c.1807G>A (p.Val603Ile)
NM_020632.3(ATP6V0A4):c.1813G>A (p.Val605Ile)
NM_020632.3(ATP6V0A4):c.1872C>A (p.Tyr624Ter) rs1464966535
NM_020632.3(ATP6V0A4):c.1915G>A (p.Val639Ile)
NM_020632.3(ATP6V0A4):c.1952T>C (p.Val651Ala)
NM_020632.3(ATP6V0A4):c.1955C>T (p.Pro652Leu)
NM_020632.3(ATP6V0A4):c.196+4A>G
NM_020632.3(ATP6V0A4):c.196C>T (p.Arg66Cys)
NM_020632.3(ATP6V0A4):c.197-17G>A
NM_020632.3(ATP6V0A4):c.1997A>G (p.His666Arg)
NM_020632.3(ATP6V0A4):c.1999C>T (p.Arg667Trp)
NM_020632.3(ATP6V0A4):c.2011-2A>G
NM_020632.3(ATP6V0A4):c.2051T>C (p.Ile684Thr)
NM_020632.3(ATP6V0A4):c.2080C>T (p.Arg694Cys)
NM_020632.3(ATP6V0A4):c.2084C>A (p.Ser695Tyr)
NM_020632.3(ATP6V0A4):c.2114G>A (p.Gly705Glu)
NM_020632.3(ATP6V0A4):c.2119C>G (p.Leu707Val)
NM_020632.3(ATP6V0A4):c.2123A>G (p.Asp708Gly)
NM_020632.3(ATP6V0A4):c.2137del (p.Glu713fs) rs1804439932
NM_020632.3(ATP6V0A4):c.2139G>C (p.Glu713Asp)
NM_020632.3(ATP6V0A4):c.217C>T (p.Gln73Ter)
NM_020632.3(ATP6V0A4):c.2215G>A (p.Ala739Thr)
NM_020632.3(ATP6V0A4):c.221del (p.Asn74fs)
NM_020632.3(ATP6V0A4):c.2227C>T (p.Arg743Trp)
NM_020632.3(ATP6V0A4):c.2228G>T (p.Arg743Leu)
NM_020632.3(ATP6V0A4):c.2230C>T (p.Leu744Phe)
NM_020632.3(ATP6V0A4):c.2258-3C>T
NM_020632.3(ATP6V0A4):c.2275T>C (p.Trp759Arg)
NM_020632.3(ATP6V0A4):c.22G>A (p.Glu8Lys)
NM_020632.3(ATP6V0A4):c.22G>C (p.Glu8Gln)
NM_020632.3(ATP6V0A4):c.2323A>G (p.Ile775Val)
NM_020632.3(ATP6V0A4):c.2336_2346del (p.Phe779fs)
NM_020632.3(ATP6V0A4):c.2350G>A (p.Val784Ile)
NM_020632.3(ATP6V0A4):c.2390A>G (p.Glu797Gly)
NM_020632.3(ATP6V0A4):c.2426A>G (p.His809Arg)
NM_020632.3(ATP6V0A4):c.2429+3A>C
NM_020632.3(ATP6V0A4):c.2430-12C>A
NM_020632.3(ATP6V0A4):c.2430-19G>A
NM_020632.3(ATP6V0A4):c.2430G>A (p.Trp810Ter)
NM_020632.3(ATP6V0A4):c.2479C>G (p.Pro827Ala)
NM_020632.3(ATP6V0A4):c.2515G>A (p.Glu839Lys)
NM_020632.3(ATP6V0A4):c.2521T>C (p.Ter841Gln) rs2117166318
NM_020632.3(ATP6V0A4):c.260C>A (p.Thr87Asn)
NM_020632.3(ATP6V0A4):c.28A>T (p.Met10Leu)
NM_020632.3(ATP6V0A4):c.292-1G>A rs776867749
NM_020632.3(ATP6V0A4):c.295G>C (p.Val99Leu)
NM_020632.3(ATP6V0A4):c.34T>A (p.Leu12Met)
NM_020632.3(ATP6V0A4):c.37T>A (p.Ser13Thr)
NM_020632.3(ATP6V0A4):c.387C>A (p.Tyr129Ter)
NM_020632.3(ATP6V0A4):c.417+11G>A
NM_020632.3(ATP6V0A4):c.418-1G>A rs587776617
NM_020632.3(ATP6V0A4):c.428A>G (p.Asn143Ser)
NM_020632.3(ATP6V0A4):c.502G>A (p.Gly168Arg)
NM_020632.3(ATP6V0A4):c.513-3T>C
NM_020632.3(ATP6V0A4):c.522del (p.Gly175fs)
NM_020632.3(ATP6V0A4):c.542G>C (p.Arg181Thr)
NM_020632.3(ATP6V0A4):c.556G>C (p.Glu186Gln)
NM_020632.3(ATP6V0A4):c.560G>A (p.Arg187Gln)
NM_020632.3(ATP6V0A4):c.571C>T (p.Arg191Ter)
NM_020632.3(ATP6V0A4):c.572G>T (p.Arg191Leu)
NM_020632.3(ATP6V0A4):c.588C>A (p.Asn196Lys)
NM_020632.3(ATP6V0A4):c.5T>A (p.Val2Glu) rs10258719
NM_020632.3(ATP6V0A4):c.616G>A (p.Ala206Thr)
NM_020632.3(ATP6V0A4):c.616_617delinsTT (p.Ala206Phe)
NM_020632.3(ATP6V0A4):c.638C>T (p.Thr213Met)
NM_020632.3(ATP6V0A4):c.639G>A (p.Thr213=)
NM_020632.3(ATP6V0A4):c.640-29dup rs72044473
NM_020632.3(ATP6V0A4):c.646G>A (p.Glu216Lys)
NM_020632.3(ATP6V0A4):c.659A>G (p.Asn220Ser)
NM_020632.3(ATP6V0A4):c.65C>A (p.Ala22Glu)
NM_020632.3(ATP6V0A4):c.671_673delinsAA (p.Ile224fs)
NM_020632.3(ATP6V0A4):c.683G>A (p.Gly228Glu)
NM_020632.3(ATP6V0A4):c.68A>G (p.Tyr23Cys)
NM_020632.3(ATP6V0A4):c.707A>G (p.Lys236Arg)
NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del) rs746982385
NM_020632.3(ATP6V0A4):c.722+1del
NM_020632.3(ATP6V0A4):c.727C>T (p.Arg243Ter)
NM_020632.3(ATP6V0A4):c.767G>A (p.Arg256His)
NM_020632.3(ATP6V0A4):c.785G>A (p.Ser262Asn)
NM_020632.3(ATP6V0A4):c.797G>T (p.Arg266Met)
NM_020632.3(ATP6V0A4):c.808T>A (p.Leu270Ile) rs538080700
NM_020632.3(ATP6V0A4):c.816+9G>A
NM_020632.3(ATP6V0A4):c.816_817insA (p.Val273fs)
NM_020632.3(ATP6V0A4):c.829del (p.Thr277fs) rs2117291505
NM_020632.3(ATP6V0A4):c.833_834del (p.Glu278fs)
NM_020632.3(ATP6V0A4):c.88G>A (p.Gly30Arg)
NM_020632.3(ATP6V0A4):c.952C>T (p.Gln318Ter)
NM_020632.3(ATP6V0A4):c.977G>A (p.Trp326Ter)
NM_020632.3(ATP6V0A4):c.977G>T (p.Trp326Leu)

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