ClinVar Miner

List of variants reported as uncertain significance for Congenital glucose-galactose malabsorption by Illumina Clinical Services Laboratory,Illumina

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Total variants: 76
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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.-23G>A rs886057400
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.*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.*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.*183G>C rs886057406
NM_000343.4(SLC5A1):c.*1842C>T
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.*2251G>A
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.*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.*707G>A rs886057409
NM_000343.4(SLC5A1):c.*715del rs777276040
NM_000343.4(SLC5A1):c.-11dup rs541991193
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.1126A>G (p.Asn376Asp) rs200834101
NM_000343.4(SLC5A1):c.1128T>C (p.Asn376=)
NM_000343.4(SLC5A1):c.121G>A (p.Ala41Thr)
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter) rs200206252
NM_000343.4(SLC5A1):c.1232C>T (p.Ala411Val)
NM_000343.4(SLC5A1):c.1280+8C>G
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=)
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.1556C>T (p.Thr519Met) rs33975915
NM_000343.4(SLC5A1):c.158G>A (p.Gly53Glu)
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) rs201799893
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.1783C>A (p.Pro595Thr)
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=) rs200228396
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp)
NM_000343.4(SLC5A1):c.1915C>T (p.Pro639Ser) rs200684333
NM_000343.4(SLC5A1):c.208-13T>A rs200261297
NM_000343.4(SLC5A1):c.312+3G>A rs200776237
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val) rs150288967
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=)
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.70C>T (p.Arg24Cys)
NM_000343.4(SLC5A1):c.770C>T (p.Thr257Ile) rs777779839
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=) rs200849778
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)

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