List of variants reported as uncertain significance for Congenital glucose-galactose malabsorption by Invitae

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 112

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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	0.00016
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.312+3G>A	rs200776237	0.00011
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.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.89C>T (p.Ser30Phe)	rs201689857	0.00005
NM_000343.4(SLC5A1):c.928G>A (p.Val310Met)	rs200727862	0.00005
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.44G>A (p.Arg15Gln)	rs142249046	0.00003
NM_000343.4(SLC5A1):c.919A>G (p.Met307Val)	rs767572551	0.00003
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.1603G>A (p.Ala535Thr)	rs759726503	0.00002
NM_000343.4(SLC5A1):c.1724C>T (p.Ala575Val)	rs185883847	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_000343.4(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.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.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.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.650T>C (p.Ile217Thr)	rs1253967489	0.00001
NM_000343.4(SLC5A1):c.691G>A (p.Ala231Thr)	rs202020538	0.00001
NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly)	rs121912669	0.00001
NC_000022.10:g.(?_32439269)_(32464607_?)dup
NC_000022.10:g.(?_32439269)_(32506200_?)dup
NC_000022.10:g.(?_32477833)_(32506200_?)dup
NC_000022.10:g.(?_32500753)_(32894517_?)dup
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.1241G>A (p.Arg414His)	rs199573966
NM_000343.4(SLC5A1):c.1256A>T (p.Glu419Val)
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.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.1431G>T (p.Trp477Cys)
NM_000343.4(SLC5A1):c.1449A>G (p.Pro483=)
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.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.1732G>A (p.Glu578Lys)	rs1396167742
NM_000343.4(SLC5A1):c.1744G>A (p.Glu582Lys)
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.194T>C (p.Met65Thr)
NM_000343.4(SLC5A1):c.196G>A (p.Val66Met)
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.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)

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