ClinVar Miner

List of variants in gene SLC4A4 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP
NM_001098484.3(SLC4A4):c.*1003A>G rs41265675
NM_001098484.3(SLC4A4):c.*1065A>C rs886059602
NM_001098484.3(SLC4A4):c.*1206A>G rs72854469
NM_001098484.3(SLC4A4):c.*1220G>A rs72854471
NM_001098484.3(SLC4A4):c.*1467T>G rs181712084
NM_001098484.3(SLC4A4):c.*1665C>T rs72854473
NM_001098484.3(SLC4A4):c.*1822del rs567579582
NM_001098484.3(SLC4A4):c.*2353C>G rs72854484
NM_001098484.3(SLC4A4):c.*2864G>A rs72854486
NM_001098484.3(SLC4A4):c.*3056A>G rs115315237
NM_001098484.3(SLC4A4):c.*3469A>G rs183839914
NM_001098484.3(SLC4A4):c.*3577A>G rs188350612
NM_001098484.3(SLC4A4):c.*3994C>T rs144720176
NM_001098484.3(SLC4A4):c.1260C>G (p.Pro420=) rs137982286
NM_001098484.3(SLC4A4):c.1271G>A (p.Gly424Asp) rs148635969
NM_001098484.3(SLC4A4):c.1942G>A (p.Glu648Lys) rs145378038
NM_001098484.3(SLC4A4):c.2010G>A (p.Ser670=) rs147661107
NM_001098484.3(SLC4A4):c.2243T>C (p.Val748Ala) rs148889712
NM_001098484.3(SLC4A4):c.2311C>T (p.Pro771Ser) rs140882617
NM_001098484.3(SLC4A4):c.2485C>A (p.Leu829Ile) rs201643562
NM_001098484.3(SLC4A4):c.254-200T>C rs150718042
NM_001098484.3(SLC4A4):c.254-52T>A rs200944017
NM_001098484.3(SLC4A4):c.2674T>C (p.Phe892Leu) rs138942006
NM_001098484.3(SLC4A4):c.2764-2dup rs148961885
NM_001098484.3(SLC4A4):c.3177C>T (p.Ser1059=) rs139191615
NM_001098484.3(SLC4A4):c.390-11C>T rs201092552
NM_001098484.3(SLC4A4):c.511A>G (p.Met171Val) rs139851720
NM_001098484.3(SLC4A4):c.520C>T (p.Arg174Trp) rs149802590
NM_001098484.3(SLC4A4):c.915A>G (p.Leu305=) rs776706481
NM_003759.3(SLC4A4):c.*1028A>G rs867289166
NM_003759.3(SLC4A4):c.*1202A>G rs367598789
NM_003759.3(SLC4A4):c.*1228A>G rs116277651
NM_003759.3(SLC4A4):c.*1407A>C rs886059603
NM_003759.3(SLC4A4):c.*1438C>T rs886059604
NM_003759.3(SLC4A4):c.*1450C>T rs886059605
NM_003759.3(SLC4A4):c.*1617C>A rs886059606
NM_003759.3(SLC4A4):c.*1761G>A rs886059607
NM_003759.3(SLC4A4):c.*1821del rs886059608
NM_003759.3(SLC4A4):c.*2002C>A rs886059609
NM_003759.3(SLC4A4):c.*217A>G rs182103477
NM_003759.3(SLC4A4):c.*2184C>T rs886059610
NM_003759.3(SLC4A4):c.*2281dup rs569665634
NM_003759.3(SLC4A4):c.*2365G>A rs886059612
NM_003759.3(SLC4A4):c.*2819A>C rs886059613
NM_003759.3(SLC4A4):c.*286A>G rs531414310
NM_003759.3(SLC4A4):c.*2916A>G rs886059614
NM_003759.3(SLC4A4):c.*2975G>A rs554658080
NM_003759.3(SLC4A4):c.*3080T>C rs886059615
NM_003759.3(SLC4A4):c.*3370C>T rs547564634
NM_003759.3(SLC4A4):c.*3615C>T rs886059616
NM_003759.3(SLC4A4):c.*3712T>C rs886059617
NM_003759.3(SLC4A4):c.*3713T>G rs762831035
NM_003759.3(SLC4A4):c.*3747G>A rs886059618
NM_003759.3(SLC4A4):c.*3802C>T rs751548567
NM_003759.3(SLC4A4):c.*4028A>G rs565713938
NM_003759.3(SLC4A4):c.*517G>A rs886059599
NM_003759.3(SLC4A4):c.*708C>A rs886059600
NM_003759.3(SLC4A4):c.*761T>C rs576650368
NM_003759.3(SLC4A4):c.*815C>T rs886059601
NM_003759.3(SLC4A4):c.1000A>C (p.Ile334Leu) rs886059595
NM_003759.3(SLC4A4):c.1103A>G (p.Asn368Ser) rs886059596
NM_003759.3(SLC4A4):c.1125G>A (p.Thr375=) rs201149572
NM_003759.3(SLC4A4):c.158G>A (p.Gly53Glu) rs781030949
NM_003759.3(SLC4A4):c.2371C>T (p.Leu791Phe) rs202236628
NM_003759.3(SLC4A4):c.2562+10T>A rs779558159
NM_003759.3(SLC4A4):c.2968-3C>T rs886059598
NM_003759.3(SLC4A4):c.3081A>G (p.Thr1027=) rs770868684
NM_003759.3(SLC4A4):c.610A>G (p.Met204Val) rs772360411
NM_003759.3(SLC4A4):c.676-4G>T rs886059594
NM_003759.3(SLC4A4):c.810G>C (p.Leu270=) rs146008079

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