ClinVar Miner

List of variants studied for autosomal recessive proximal renal tubular acidosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.*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_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_001098484.3(SLC4A4):c.*1206A>G rs72854469 0.00833
NM_001098484.3(SLC4A4):c.*2428T>C rs114778480 0.00736
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.*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_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.807+13T>G rs116455604 0.00154
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.520C>T (p.Arg174Trp) rs149802590 0.00111
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_001098484.3(SLC4A4):c.1900C>T (p.Pro634Ser) rs150863118 0.00066
NM_001098484.3(SLC4A4):c.2674T>C (p.Phe892Leu) rs138942006 0.00059
NM_001098484.3(SLC4A4):c.1361C>T (p.Ala454Val) rs138493429 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.*2819A>C rs886059613 0.00029
NM_001098484.3(SLC4A4):c.390-11C>T rs201092552 0.00029
NM_001098484.3(SLC4A4):c.2485C>A (p.Leu829Ile) rs201643562 0.00028
NM_001098484.3(SLC4A4):c.2010G>A (p.Ser670=) rs147661107 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_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_001098484.3(SLC4A4):c.*734G>A rs768817613 0.00017
NM_001098484.3(SLC4A4):c.*1822del rs567579582 0.00016
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.*1526C>A rs1028183538 0.00011
NM_001098484.3(SLC4A4):c.2925T>C (p.Ile975=) rs143924311 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_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_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_001098484.3(SLC4A4):c.511A>G (p.Met171Val) rs139851720 0.00006
NM_001098484.3(SLC4A4):c.*1707A>G rs369867972 0.00005
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_001098484.3(SLC4A4):c.*2916A>G rs886059614 0.00003
NM_001098484.3(SLC4A4):c.2040C>A (p.Asn680Lys) rs201133749 0.00003
NM_001098484.3(SLC4A4):c.742A>G (p.Met248Val) rs772360411 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_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.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.965+11C>T rs550285672 0.00001
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.*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.1132A>C (p.Ile378Leu) rs886059595
NM_001098484.3(SLC4A4):c.1235A>G (p.Asn412Ser) rs886059596
NM_001098484.3(SLC4A4):c.254-187G>A rs1728681523
NM_001098484.3(SLC4A4):c.2547T>G (p.Ile849Met) rs1735529581
NM_001098484.3(SLC4A4):c.2612T>G (p.Leu871Arg) rs1735535325
NM_001098484.3(SLC4A4):c.290G>A (p.Gly97Glu) rs781030949
NM_001098484.3(SLC4A4):c.3226C>T (p.His1076Tyr) rs1737540024
NM_001098484.3(SLC4A4):c.390-5C>T rs181184794
NM_001098484.3(SLC4A4):c.808-4G>T rs886059594
NM_001098484.3(SLC4A4):c.915A>G (p.Leu305=) rs776706481

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.