ClinVar Miner

List of variants reported as uncertain significance 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: 108
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HGVS dbSNP gnomAD frequency
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.*3469A>G rs183839914 0.00317
NM_001098484.3(SLC4A4):c.1805A>G (p.Lys602Arg) rs72650362 0.00264
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.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.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_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.2031C>T (p.Tyr677=) rs200126485 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.*1956T>C rs866386860 0.00004
NM_001098484.3(SLC4A4):c.*3370C>T rs547564634 0.00004
NM_001098484.3(SLC4A4):c.2694+10T>A rs779558159 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.*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.*517G>A rs886059599
NM_001098484.3(SLC4A4):c.*552A>C rs553403475
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>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

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