ClinVar Miner

List of variants in gene SLC5A1 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 183
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HGVS dbSNP gnomAD frequency
NM_000343.4(SLC5A1):c.*703C>T rs576036983 0.00305
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu) rs150117594 0.00264
NM_000343.4(SLC5A1):c.*1744G>A rs376602365 0.00109
NM_000343.4(SLC5A1):c.*649G>A rs544819758 0.00102
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val) rs150288967 0.00086
NM_000343.3(SLC5A1):c.-60C>T rs200410750 0.00056
NM_000343.3(SLC5A1):c.-120C>T rs886057399 0.00031
NM_000343.4(SLC5A1):c.*707G>A rs886057409 0.00026
NM_000343.4(SLC5A1):c.1280+8C>G rs200130719 0.00025
NM_000343.4(SLC5A1):c.*2251G>A rs569361272 0.00021
NM_000343.4(SLC5A1):c.*1312A>G rs768251081 0.00019
NM_000343.4(SLC5A1):c.*1995T>C rs999440734 0.00019
NM_000343.4(SLC5A1):c.1066G>A (p.Gly356Ser) rs141412905 0.00019
NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys) rs201800716 0.00016
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=) rs200228396 0.00014
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=) rs148720069 0.00014
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr) rs139760182 0.00013
NM_000343.4(SLC5A1):c.1763T>C (p.Ile588Thr) rs201862174 0.00013
NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr) rs147453689 0.00012
NM_000343.4(SLC5A1):c.312+3G>A rs200776237 0.00011
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile) rs33918436 0.00011
NM_000343.4(SLC5A1):c.*636A>G rs932433422 0.00008
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met) rs33975915 0.00008
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp) rs200626260 0.00008
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=) rs201895474 0.00007
NM_000343.4(SLC5A1):c.*1053G>A rs376345201 0.00006
NM_000343.4(SLC5A1):c.*1559C>T rs372572143 0.00006
NM_000343.4(SLC5A1):c.1012C>G (p.Leu338Val) rs201216997 0.00006
NM_000343.4(SLC5A1):c.1618A>G (p.Thr540Ala) rs200105476 0.00006
NM_000343.4(SLC5A1):c.34G>A (p.Ala12Thr) rs202189110 0.00006
NM_000343.4(SLC5A1):c.1054G>A (p.Glu352Lys) rs200308405 0.00005
NM_000343.4(SLC5A1):c.549C>T (p.Leu183=) rs376255565 0.00005
NM_000343.4(SLC5A1):c.624G>A (p.Thr208=) rs144581584 0.00005
NM_000343.4(SLC5A1):c.89C>T (p.Ser30Phe) rs201689857 0.00005
NM_000343.4(SLC5A1):c.928G>A (p.Val310Met) rs200727862 0.00005
NM_000343.3(SLC5A1):c.-51G>A rs199663392 0.00004
NM_000343.4(SLC5A1):c.*334G>A rs199902294 0.00004
NM_000343.4(SLC5A1):c.1126A>G (p.Asn376Asp) rs200834101 0.00004
NM_000343.4(SLC5A1):c.1693A>G (p.Asn565Asp) rs33948878 0.00004
NM_000343.4(SLC5A1):c.461T>C (p.Ile154Thr) rs565272257 0.00004
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=) rs200849778 0.00004
NM_000343.4(SLC5A1):c.*1842C>T rs1039766018 0.00003
NM_000343.4(SLC5A1):c.*451A>G rs200434456 0.00003
NM_000343.4(SLC5A1):c.1232C>T (p.Ala411Val) rs751571109 0.00003
NM_000343.4(SLC5A1):c.44G>A (p.Arg15Gln) rs142249046 0.00003
NM_000343.4(SLC5A1):c.919A>G (p.Met307Val) rs767572551 0.00003
NM_000343.4(SLC5A1):c.*2132C>A rs541518106 0.00002
NM_000343.4(SLC5A1):c.*638T>C rs1049834917 0.00002
NM_000343.4(SLC5A1):c.1128T>C (p.Asn376=) rs201834537 0.00002
NM_000343.4(SLC5A1):c.1136G>A (p.Arg379Gln) rs747215838 0.00002
NM_000343.4(SLC5A1):c.1156A>G (p.Met386Val) rs200964696 0.00002
NM_000343.4(SLC5A1):c.1267A>G (p.Met423Val) rs773967126 0.00002
NM_000343.4(SLC5A1):c.1400T>C (p.Ile467Thr) rs199872460 0.00002
NM_000343.4(SLC5A1):c.1603G>A (p.Ala535Thr) rs759726503 0.00002
NM_000343.4(SLC5A1):c.1724C>T (p.Ala575Val) rs185883847 0.00002
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=) rs368853644 0.00002
NM_000343.4(SLC5A1):c.188G>A (p.Arg63Gln) rs200352654 0.00002
NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg) rs777391124 0.00002
NM_000343.4(SLC5A1):c.623C>T (p.Thr208Met) rs199872285 0.00002
NM_000343.4(SLC5A1):c.709A>C (p.Met237Leu) rs766404734 0.00002
NM_000343.3(SLC5A1):c.-238G>A rs1349973469 0.00001
NM_000343.4(SLC5A1):c.*1408G>A rs1243897828 0.00001
NM_000343.4(SLC5A1):c.*1595A>C rs1232699809 0.00001
NM_000343.4(SLC5A1):c.*1755T>G rs886057413 0.00001
NM_000343.4(SLC5A1):c.*2201G>A rs1394513769 0.00001
NM_000343.4(SLC5A1):c.*2694A>G rs1379735549 0.00001
NM_000343.4(SLC5A1):c.*599C>T rs2094055488 0.00001
NM_000343.4(SLC5A1):c.1028T>C (p.Ile343Thr) rs774741107 0.00001
NM_000343.4(SLC5A1):c.1120A>G (p.Met374Val) rs1397555319 0.00001
NM_000343.4(SLC5A1):c.1127A>G (p.Asn376Ser) rs779179648 0.00001
NM_000343.4(SLC5A1):c.1256A>G (p.Glu419Gly) rs1414911182 0.00001
NM_000343.4(SLC5A1):c.1276G>A (p.Gly426Arg) rs1304151494 0.00001
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=) rs1229387697 0.00001
NM_000343.4(SLC5A1):c.1360G>A (p.Asp454Asn) rs202145392 0.00001
NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys) rs767673239 0.00001
NM_000343.4(SLC5A1):c.1642A>T (p.Thr548Ser) rs945722283 0.00001
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) rs201799893 0.00001
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=) rs1475148938 0.00001
NM_000343.4(SLC5A1):c.1765G>T (p.Glu589Ter) rs199727071 0.00001
NM_000343.4(SLC5A1):c.182C>T (p.Ala61Val) rs1277952619 0.00001
NM_000343.4(SLC5A1):c.206C>T (p.Pro69Leu) rs199683554 0.00001
NM_000343.4(SLC5A1):c.207+2dup rs766189236 0.00001
NM_000343.4(SLC5A1):c.208-13T>A rs200261297 0.00001
NM_000343.4(SLC5A1):c.325G>T (p.Val109Leu) rs1260871547 0.00001
NM_000343.4(SLC5A1):c.404G>A (p.Arg135Gln) rs373203939 0.00001
NM_000343.4(SLC5A1):c.43C>T (p.Arg15Trp) rs33915717 0.00001
NM_000343.4(SLC5A1):c.477G>A (p.Ser159=) rs775435397 0.00001
NM_000343.4(SLC5A1):c.609G>A (p.Thr203=) rs200276021 0.00001
NM_000343.4(SLC5A1):c.650T>C (p.Ile217Thr) rs1253967489 0.00001
NM_000343.4(SLC5A1):c.691G>A (p.Ala231Thr) rs202020538 0.00001
NM_000343.4(SLC5A1):c.770C>T (p.Thr257Ile) rs777779839 0.00001
NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly) rs121912669 0.00001
NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp) rs1336341879 0.00001
NC_000022.10:g.(?_32439269)_(32464607_?)dup
NC_000022.10:g.(?_32439269)_(32506200_?)dup
NC_000022.10:g.(?_32477833)_(32506200_?)dup
NM_000343.3(SLC5A1):c.-23G>A rs886057400
NM_000343.4(SLC5A1):c.*1251G>T rs886057411
NM_000343.4(SLC5A1):c.*1346A>G rs886057412
NM_000343.4(SLC5A1):c.*1522T>G rs2094057473
NM_000343.4(SLC5A1):c.*155C>T rs886057405
NM_000343.4(SLC5A1):c.*183G>C rs886057406
NM_000343.4(SLC5A1):c.*2352A>T rs2094059162
NM_000343.4(SLC5A1):c.*2411C>G rs2094059315
NM_000343.4(SLC5A1):c.*2612T>C rs2094059794
NM_000343.4(SLC5A1):c.*510G>A rs886057408
NM_000343.4(SLC5A1):c.*715del rs777276040
NM_000343.4(SLC5A1):c.-11dup rs541991193
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys) rs768831308
NM_000343.4(SLC5A1):c.1030G>T (p.Ala344Ser) rs2149492818
NM_000343.4(SLC5A1):c.1088A>G (p.Asn363Ser)
NM_000343.4(SLC5A1):c.1097A>G (p.Tyr366Cys) rs2149492851
NM_000343.4(SLC5A1):c.1129+6_1129+7delinsTG rs2149492872
NM_000343.4(SLC5A1):c.1171A>C (p.Met391Leu) rs1359279768
NM_000343.4(SLC5A1):c.1202C>T (p.Ala401Val) rs2149494224
NM_000343.4(SLC5A1):c.121G>A (p.Ala41Thr) rs770382788
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter) rs200206252
NM_000343.4(SLC5A1):c.1241G>A (p.Arg414His) rs199573966
NM_000343.4(SLC5A1):c.1256A>T (p.Glu419Val)
NM_000343.4(SLC5A1):c.1281G>T (p.Arg427Ser)
NM_000343.4(SLC5A1):c.1315G>A (p.Ala439Thr)
NM_000343.4(SLC5A1):c.1339G>A (p.Ala447Thr)
NM_000343.4(SLC5A1):c.1371G>C (p.Gln457His) rs2149496672
NM_000343.4(SLC5A1):c.1390G>A (p.Gly464Arg) rs886057402
NM_000343.4(SLC5A1):c.1403C>A (p.Ala468Glu) rs200406921
NM_000343.4(SLC5A1):c.1403C>T (p.Ala468Val)
NM_000343.4(SLC5A1):c.1404G>A (p.Ala468=) rs767459349
NM_000343.4(SLC5A1):c.1427T>G (p.Phe476Cys) rs2094032479
NM_000343.4(SLC5A1):c.1431G>T (p.Trp477Cys)
NM_000343.4(SLC5A1):c.1449A>G (p.Pro483=)
NM_000343.4(SLC5A1):c.1450G>A (p.Gly484Arg) rs886057403
NM_000343.4(SLC5A1):c.155G>A (p.Arg52His) rs773674977
NM_000343.4(SLC5A1):c.1570G>A (p.Val524Met) rs2149497555
NM_000343.4(SLC5A1):c.158G>A (p.Gly53Glu) rs1334755356
NM_000343.4(SLC5A1):c.1628T>G (p.Val543Gly)
NM_000343.4(SLC5A1):c.164T>C (p.Val55Ala) rs2093943146
NM_000343.4(SLC5A1):c.1672C>T (p.Arg558Cys)
NM_000343.4(SLC5A1):c.1691G>A (p.Arg564His)
NM_000343.4(SLC5A1):c.1697G>A (p.Ser566Asn) rs1390196310
NM_000343.4(SLC5A1):c.16T>C (p.Trp6Arg)
NM_000343.4(SLC5A1):c.1711A>G (p.Ile571Val)
NM_000343.4(SLC5A1):c.1724C>A (p.Ala575Glu) rs185883847
NM_000343.4(SLC5A1):c.1730A>C (p.Glu577Ala) rs2094042528
NM_000343.4(SLC5A1):c.1732G>A (p.Glu578Lys) rs1396167742
NM_000343.4(SLC5A1):c.1744G>A (p.Glu582Lys)
NM_000343.4(SLC5A1):c.1772-5C>A rs886057404
NM_000343.4(SLC5A1):c.1814C>T (p.Ala605Val) rs2094053423
NM_000343.4(SLC5A1):c.182C>A (p.Ala61Glu) rs1277952619
NM_000343.4(SLC5A1):c.1886AGATGA[3] (p.Met632_Thr633insLysMet)
NM_000343.4(SLC5A1):c.1889T>A (p.Met630Lys)
NM_000343.4(SLC5A1):c.1915C>G (p.Pro639Ala) rs200684333
NM_000343.4(SLC5A1):c.1915C>T (p.Pro639Ser) rs200684333
NM_000343.4(SLC5A1):c.194T>C (p.Met65Thr)
NM_000343.4(SLC5A1):c.196G>A (p.Val66Met)
NM_000343.4(SLC5A1):c.1993T>C (p.Ter665Arg) rs1382025396
NM_000343.4(SLC5A1):c.1994G>A (p.Ter665=)
NM_000343.4(SLC5A1):c.218C>T (p.Ser73Phe) rs762929535
NM_000343.4(SLC5A1):c.265G>A (p.Gly89Arg)
NM_000343.4(SLC5A1):c.272G>C (p.Gly91Ala) rs2149487772
NM_000343.4(SLC5A1):c.277G>A (p.Ala93Thr)
NM_000343.4(SLC5A1):c.307T>G (p.Trp103Gly)
NM_000343.4(SLC5A1):c.323T>C (p.Leu108Ser)
NM_000343.4(SLC5A1):c.372G>A (p.Gly124=)
NM_000343.4(SLC5A1):c.419G>A (p.Arg140Gln)
NM_000343.4(SLC5A1):c.41C>T (p.Thr14Ile) rs2149481647
NM_000343.4(SLC5A1):c.478-11T>A
NM_000343.4(SLC5A1):c.536T>C (p.Leu179Ser) rs2149491664
NM_000343.4(SLC5A1):c.559A>G (p.Ile187Val)
NM_000343.4(SLC5A1):c.581C>T (p.Thr194Ile)
NM_000343.4(SLC5A1):c.583+3G>A
NM_000343.4(SLC5A1):c.593C>T (p.Ala198Val)
NM_000343.4(SLC5A1):c.596C>T (p.Ala199Val)
NM_000343.4(SLC5A1):c.685_696del (p.Tyr229_Phe232del) rs1555965813
NM_000343.4(SLC5A1):c.697A>G (p.Met233Val)
NM_000343.4(SLC5A1):c.759A>T (p.Glu253Asp)
NM_000343.4(SLC5A1):c.760A>G (p.Lys254Glu) rs145740433
NM_000343.4(SLC5A1):c.812C>T (p.Thr271Met)
NM_000343.4(SLC5A1):c.839T>C (p.Ile280Thr) rs2149492356
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val) rs139037092
NM_000343.4(SLC5A1):c.885+5C>T rs199536443
NM_000343.4(SLC5A1):c.898C>T (p.Arg300Cys) rs201079555
NM_000343.4(SLC5A1):c.915_917del (p.Lys305del)
NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup) rs775681808

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