ClinVar Miner

List of variants reported as uncertain significance for Congenital glucose-galactose malabsorption by Fulgent Genetics, Fulgent Genetics

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000343.4(SLC5A1):c.1066G>A (p.Gly356Ser) rs141412905 0.00019
NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys) rs201800716 0.00015
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr) rs139760182 0.00013
NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr) rs147453689 0.00012
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met) rs33975915 0.00010
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp) rs200626260 0.00008
NM_000343.4(SLC5A1):c.1012C>G (p.Leu338Val) rs201216997 0.00005
NM_000343.4(SLC5A1):c.1054G>A (p.Glu352Lys) rs200308405 0.00005
NM_000343.4(SLC5A1):c.34G>A (p.Ala12Thr) rs202189110 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_000343.4(SLC5A1):c.1693A>G (p.Asn565Asp) rs33948878 0.00004
NM_000343.4(SLC5A1):c.593C>T (p.Ala198Val) rs142137533 0.00004
NM_000343.4(SLC5A1):c.188G>A (p.Arg63Gln) rs200352654 0.00003
NM_000343.4(SLC5A1):c.1400T>C (p.Ile467Thr) rs199872460 0.00002
NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys) rs767673239 0.00002
NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg) rs777391124 0.00002
NM_000343.4(SLC5A1):c.697A>G (p.Met233Val) rs200026740 0.00002
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.1276G>A (p.Gly426Arg) rs1304151494 0.00001
NM_000343.4(SLC5A1):c.1301T>C (p.Ile434Thr) rs202090647 0.00001
NM_000343.4(SLC5A1):c.1404G>A (p.Ala468=) rs767459349 0.00001
NM_000343.4(SLC5A1):c.1642A>T (p.Thr548Ser) rs945722283 0.00001
NM_000343.4(SLC5A1):c.1672C>T (p.Arg558Cys) rs754586981 0.00001
NM_000343.4(SLC5A1):c.182C>T (p.Ala61Val) rs1277952619 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.609G>A (p.Thr203=) rs200276021 0.00001
NM_000343.4(SLC5A1):c.770C>T (p.Thr257Ile) rs777779839 0.00001
NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp) rs1336341879 0.00001
NM_000343.4(SLC5A1):c.109G>A (p.Val37Met)
NM_000343.4(SLC5A1):c.1129+3G>A
NM_000343.4(SLC5A1):c.1191C>T (p.Ile397=) rs1457860223
NM_000343.4(SLC5A1):c.1201G>A (p.Ala401Thr)
NM_000343.4(SLC5A1):c.1224C>T (p.Asp408=)
NM_000343.4(SLC5A1):c.1240C>T (p.Arg414Cys)
NM_000343.4(SLC5A1):c.1241G>A (p.Arg414His) rs199573966
NM_000343.4(SLC5A1):c.1261G>C (p.Glu421Gln)
NM_000343.4(SLC5A1):c.1403C>A (p.Ala468Glu) rs200406921
NM_000343.4(SLC5A1):c.1431G>T (p.Trp477Cys) rs200665892
NM_000343.4(SLC5A1):c.1449+15G>T
NM_000343.4(SLC5A1):c.1449A>G (p.Pro483=) rs752536347
NM_000343.4(SLC5A1):c.1665+3G>A
NM_000343.4(SLC5A1):c.1691G>A (p.Arg564His) rs1449988154
NM_000343.4(SLC5A1):c.1702G>C (p.Glu568Gln)
NM_000343.4(SLC5A1):c.1738A>G (p.Ile580Val)
NM_000343.4(SLC5A1):c.1751C>T (p.Pro584Leu)
NM_000343.4(SLC5A1):c.1772-11C>T
NM_000343.4(SLC5A1):c.1787A>C (p.Glu596Ala)
NM_000343.4(SLC5A1):c.1801A>G (p.Ile601Val)
NM_000343.4(SLC5A1):c.1883T>C (p.Met628Thr)
NM_000343.4(SLC5A1):c.1915C>G (p.Pro639Ala) rs200684333
NM_000343.4(SLC5A1):c.1919T>C (p.Leu640Ser)
NM_000343.4(SLC5A1):c.194T>C (p.Met65Thr) rs201383366
NM_000343.4(SLC5A1):c.207G>A (p.Pro69=)
NM_000343.4(SLC5A1):c.286A>G (p.Ile96Val)
NM_000343.4(SLC5A1):c.293T>C (p.Ile98Thr)
NM_000343.4(SLC5A1):c.307T>G (p.Trp103Gly) rs2093974548
NM_000343.4(SLC5A1):c.313-7A>T
NM_000343.4(SLC5A1):c.323T>C (p.Leu108Ser) rs2517649710
NM_000343.4(SLC5A1):c.373-10C>T
NM_000343.4(SLC5A1):c.376G>A (p.Val126Met)
NM_000343.4(SLC5A1):c.491C>T (p.Ser164Leu)
NM_000343.4(SLC5A1):c.536T>C (p.Leu179Ser) rs2149491664
NM_000343.4(SLC5A1):c.611A>G (p.Asp204Gly)
NM_000343.4(SLC5A1):c.664+11C>T
NM_000343.4(SLC5A1):c.685_696del (p.Tyr229_Phe232del) rs1555965813
NM_000343.4(SLC5A1):c.800G>A (p.Arg267Gln)
NM_000343.4(SLC5A1):c.85A>G (p.Ile29Val)
NM_000343.4(SLC5A1):c.955T>C (p.Tyr319His)

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