ClinVar Miner

List of variants studied for Congenital glucose-galactose malabsorption

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ClinVar version:
Total variants: 136
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HGVS dbSNP
NC_000022.11:g.32043044G>A
NM_000343.3(SLC5A1):c.-120C>T rs886057399
NM_000343.3(SLC5A1):c.-170C>T rs142248518
NM_000343.3(SLC5A1):c.-23G>A rs886057400
NM_000343.3(SLC5A1):c.-36G>A rs200961861
NM_000343.3(SLC5A1):c.-51G>A rs199663392
NM_000343.3(SLC5A1):c.-60C>T rs200410750
NM_000343.4(SLC5A1):c.*1053G>A rs376345201
NM_000343.4(SLC5A1):c.*1203A>G
NM_000343.4(SLC5A1):c.*1237A>G rs368732312
NM_000343.4(SLC5A1):c.*1251G>T rs886057411
NM_000343.4(SLC5A1):c.*1312A>G rs768251081
NM_000343.4(SLC5A1):c.*1346A>G rs886057412
NM_000343.4(SLC5A1):c.*1408G>A
NM_000343.4(SLC5A1):c.*1432G>T rs28540121
NM_000343.4(SLC5A1):c.*1455C>A rs559383534
NM_000343.4(SLC5A1):c.*1476A>G
NM_000343.4(SLC5A1):c.*1508C>A rs8142324
NM_000343.4(SLC5A1):c.*1522T>G
NM_000343.4(SLC5A1):c.*1559C>T rs372572143
NM_000343.4(SLC5A1):c.*155C>T rs886057405
NM_000343.4(SLC5A1):c.*1595A>C
NM_000343.4(SLC5A1):c.*1744G>A rs376602365
NM_000343.4(SLC5A1):c.*1755T>G rs886057413
NM_000343.4(SLC5A1):c.*1804T>C rs17683807
NM_000343.4(SLC5A1):c.*183G>C rs886057406
NM_000343.4(SLC5A1):c.*1842C>T
NM_000343.4(SLC5A1):c.*1940G>A rs117112619
NM_000343.4(SLC5A1):c.*1995T>C
NM_000343.4(SLC5A1):c.*2132C>A rs541518106
NM_000343.4(SLC5A1):c.*2201G>A
NM_000343.4(SLC5A1):c.*2244C>T
NM_000343.4(SLC5A1):c.*2245C>T rs9621386
NM_000343.4(SLC5A1):c.*2251G>A
NM_000343.4(SLC5A1):c.*2257A>G rs5753868
NM_000343.4(SLC5A1):c.*2275C>T
NM_000343.4(SLC5A1):c.*2352A>T
NM_000343.4(SLC5A1):c.*2411C>G
NM_000343.4(SLC5A1):c.*2612T>C
NM_000343.4(SLC5A1):c.*2694A>G
NM_000343.4(SLC5A1):c.*334G>A
NM_000343.4(SLC5A1):c.*400C>T rs117362976
NM_000343.4(SLC5A1):c.*423dup rs140860103
NM_000343.4(SLC5A1):c.*451A>G
NM_000343.4(SLC5A1):c.*510G>A rs886057408
NM_000343.4(SLC5A1):c.*599C>T
NM_000343.4(SLC5A1):c.*636A>G
NM_000343.4(SLC5A1):c.*638T>C
NM_000343.4(SLC5A1):c.*649G>A rs544819758
NM_000343.4(SLC5A1):c.*703C>T rs576036983
NM_000343.4(SLC5A1):c.*706C>T rs1056444
NM_000343.4(SLC5A1):c.*707G>A rs886057409
NM_000343.4(SLC5A1):c.*715del rs777276040
NM_000343.4(SLC5A1):c.*771C>T rs550005508
NM_000343.4(SLC5A1):c.*795G>T rs117904039
NM_000343.4(SLC5A1):c.*902T>G rs16989883
NM_000343.4(SLC5A1):c.-11dup rs541991193
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His) rs774651252
NM_000343.4(SLC5A1):c.1012C>G (p.Leu338Val) rs201216997
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr) rs139760182
NM_000343.4(SLC5A1):c.1028T>C (p.Ile343Thr) rs774741107
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=) rs33915456
NM_000343.4(SLC5A1):c.1126A>G (p.Asn376Asp) rs200834101
NM_000343.4(SLC5A1):c.1128T>C (p.Asn376=)
NM_000343.4(SLC5A1):c.1129+7T>G rs5998233
NM_000343.4(SLC5A1):c.1130-9C>T rs33914280
NM_000343.4(SLC5A1):c.1156A>G (p.Met386Val)
NM_000343.4(SLC5A1):c.1171A>C (p.Met391Leu)
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=)
NM_000343.4(SLC5A1):c.121G>A (p.Ala41Thr)
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter) rs200206252
NM_000343.4(SLC5A1):c.1231G>A (p.Ala411Thr) rs17683430
NM_000343.4(SLC5A1):c.1232C>T (p.Ala411Val)
NM_000343.4(SLC5A1):c.1275C>T (p.Ala425=) rs17683448
NM_000343.4(SLC5A1):c.1280+8C>G
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=)
NM_000343.4(SLC5A1):c.1359C>T (p.Phe453=)
NM_000343.4(SLC5A1):c.1360G>A (p.Asp454Asn)
NM_000343.4(SLC5A1):c.1370A>G (p.Gln457Arg) rs200401846
NM_000343.4(SLC5A1):c.1390G>A (p.Gly464Arg) rs886057402
NM_000343.4(SLC5A1):c.1427T>G (p.Phe476Cys)
NM_000343.4(SLC5A1):c.1450G>A (p.Gly484Arg) rs886057403
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=)
NM_000343.4(SLC5A1):c.152A>G (p.Asn51Ser) rs17683011
NM_000343.4(SLC5A1):c.153T>C (p.Asn51=)
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met) rs33975915
NM_000343.4(SLC5A1):c.158G>A (p.Gly53Glu)
NM_000343.4(SLC5A1):c.164T>C (p.Val55Ala)
NM_000343.4(SLC5A1):c.1666-5T>C rs33968460
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) rs201799893
NM_000343.4(SLC5A1):c.1695del (p.Asn565fs) rs1455367784
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=)
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=) rs368853644
NM_000343.4(SLC5A1):c.1730A>C (p.Glu577Ala)
NM_000343.4(SLC5A1):c.1763T>C (p.Ile588Thr) rs201862174
NM_000343.4(SLC5A1):c.1772-5C>A rs886057404
NM_000343.4(SLC5A1):c.1772-6G>A
NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr)
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=) rs200228396
NM_000343.4(SLC5A1):c.1836A>G (p.Leu612=) rs17683704
NM_000343.4(SLC5A1):c.1845C>G (p.His615Gln) rs33954001
NM_000343.4(SLC5A1):c.1846G>A (p.Gly616Ser) rs61733910
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp)
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter)
NM_000343.4(SLC5A1):c.1899G>A (p.Thr633=) rs33943816
NM_000343.4(SLC5A1):c.1915C>T (p.Pro639Ser) rs200684333
NM_000343.4(SLC5A1):c.1938C>T (p.Asn646=) rs33954397
NM_000343.4(SLC5A1):c.206C>T (p.Pro69Leu)
NM_000343.4(SLC5A1):c.207+19G>A
NM_000343.4(SLC5A1):c.208-13T>A rs200261297
NM_000343.4(SLC5A1):c.218C>T (p.Ser73Phe)
NM_000343.4(SLC5A1):c.312+3G>A rs200776237
NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg)
NM_000343.4(SLC5A1):c.34G>A (p.Ala12Thr)
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val) rs150288967
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=)
NM_000343.4(SLC5A1):c.373-13G>A rs201398293
NM_000343.4(SLC5A1):c.477G>A (p.Ser159=)
NM_000343.4(SLC5A1):c.478-7dup
NM_000343.4(SLC5A1):c.50T>C (p.Val17Ala) rs33951240
NM_000343.4(SLC5A1):c.549C>T (p.Leu183=) rs376255565
NM_000343.4(SLC5A1):c.624G>A (p.Thr208=) rs144581584
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu) rs150117594
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=) rs33973317
NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys)
NM_000343.4(SLC5A1):c.744C>T (p.Asn248=)
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)
NM_000343.4(SLC5A1):c.770C>T (p.Thr257Ile) rs777779839
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter) rs779502629
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=) rs200849778
NM_000343.4(SLC5A1):c.82G>A (p.Asp28Asn) rs121912668
NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly) rs121912669
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val) rs139037092
NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp)
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile)
NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup) rs775681808

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