ClinVar Miner

List of variants reported as likely benign for Congenital glucose-galactose malabsorption

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ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=) rs33915456 0.00975
NM_000343.4(SLC5A1):c.*1203A>G rs149444431 0.00762
NM_000343.4(SLC5A1):c.*1476A>G rs190638859 0.00277
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu) rs150117594 0.00264
NM_000343.4(SLC5A1):c.1846G>A (p.Gly616Ser) rs61733910 0.00081
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=) rs142046439 0.00027
NM_000343.4(SLC5A1):c.744C>T (p.Asn248=) rs185126699 0.00026
NM_000343.4(SLC5A1):c.1280+8C>G rs200130719 0.00025
NM_000343.4(SLC5A1):c.1752T>G (p.Pro584=) rs149362007 0.00024
NM_000343.4(SLC5A1):c.*1237A>G rs368732312 0.00016
NM_000343.4(SLC5A1):c.208-8G>A rs199783226 0.00016
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=) rs200228396 0.00014
NM_000343.4(SLC5A1):c.1065C>T (p.Cys355=) rs199702272 0.00013
NM_000343.4(SLC5A1):c.*1455C>A rs559383534 0.00010
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=) rs201895474 0.00007
NM_000343.4(SLC5A1):c.537A>G (p.Leu179=) rs373939295 0.00007
NM_000343.4(SLC5A1):c.1130-7C>A rs779556793 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.1918T>C (p.Leu640=) rs201676029 0.00004
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=) rs200849778 0.00004
NM_000343.4(SLC5A1):c.885+15T>C rs557130106 0.00004
NM_000343.3(SLC5A1):c.-36G>A rs200961861 0.00002
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=) rs368853644 0.00002
NM_000343.4(SLC5A1):c.478-20C>T rs200103091 0.00002
NM_000343.4(SLC5A1):c.1149A>G (p.Leu383=) rs781091733 0.00001
NM_000343.4(SLC5A1):c.1230C>T (p.Tyr410=) rs200206252 0.00001
NM_000343.4(SLC5A1):c.1245G>A (p.Lys415=) rs200577192 0.00001
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=) rs1229387697 0.00001
NM_000343.4(SLC5A1):c.135+12G>T rs927895146 0.00001
NM_000343.4(SLC5A1):c.1434G>A (p.Lys478=) rs374997248 0.00001
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=) rs1475148938 0.00001
NM_000343.4(SLC5A1):c.1740C>T (p.Ile580=) rs200702605 0.00001
NM_000343.4(SLC5A1):c.1771+9T>C rs995612487 0.00001
NM_000343.4(SLC5A1):c.207+19G>A rs201259641 0.00001
NM_000343.4(SLC5A1):c.208-13T>A rs200261297 0.00001
NM_000343.4(SLC5A1):c.30C>T (p.Thr10=) rs750528703 0.00001
NM_000343.4(SLC5A1):c.334C>T (p.Leu112=) rs1424187026 0.00001
NM_000343.4(SLC5A1):c.373-13G>A rs201398293 0.00001
NM_000343.4(SLC5A1):c.478-12C>T rs1447609181 0.00001
NM_000343.4(SLC5A1):c.583+20C>A rs757295052 0.00001
NM_000343.4(SLC5A1):c.609G>A (p.Thr203=) rs200276021 0.00001
NM_000343.4(SLC5A1):c.738T>C (p.Asp246=) rs1396640058 0.00001
NM_000343.4(SLC5A1):c.855C>T (p.Ile285=) rs1471239456 0.00001
NM_000343.4(SLC5A1):c.886-10T>C rs201709042 0.00001
NM_000343.4(SLC5A1):c.886-15G>A rs2094005569 0.00001
NM_000343.4(SLC5A1):c.886-5G>C rs763128374 0.00001
NM_000343.4(SLC5A1):c.*423dup rs140860103
NM_000343.4(SLC5A1):c.1002C>T (p.Ile334=)
NM_000343.4(SLC5A1):c.1008C>T (p.Arg336=)
NM_000343.4(SLC5A1):c.1021+15T>G
NM_000343.4(SLC5A1):c.1022-7T>C
NM_000343.4(SLC5A1):c.102C>T (p.Ile34=)
NM_000343.4(SLC5A1):c.1035T>C (p.Cys345=)
NM_000343.4(SLC5A1):c.1038C>T (p.Val346=)
NM_000343.4(SLC5A1):c.1089C>T (p.Asn363=)
NM_000343.4(SLC5A1):c.1129+23_1129+26del rs2149492876
NM_000343.4(SLC5A1):c.114A>G (p.Val38=) rs2149481673
NM_000343.4(SLC5A1):c.1179C>T (p.Ser393=)
NM_000343.4(SLC5A1):c.1182G>A (p.Leu394=)
NM_000343.4(SLC5A1):c.1185C>T (p.Thr395=)
NM_000343.4(SLC5A1):c.1191C>T (p.Ile397=)
NM_000343.4(SLC5A1):c.1203C>T (p.Ala401=)
NM_000343.4(SLC5A1):c.1233C>G (p.Ala411=)
NM_000343.4(SLC5A1):c.1236G>A (p.Lys412=)
NM_000343.4(SLC5A1):c.123C>T (p.Ala41=)
NM_000343.4(SLC5A1):c.126C>T (p.Val42=)
NM_000343.4(SLC5A1):c.1280+7G>T
NM_000343.4(SLC5A1):c.1281-8_1281-4dup
NM_000343.4(SLC5A1):c.135+10G>A
NM_000343.4(SLC5A1):c.135+14T>G
NM_000343.4(SLC5A1):c.135+16T>G
NM_000343.4(SLC5A1):c.135+9C>T
NM_000343.4(SLC5A1):c.136-17dup rs2093943077
NM_000343.4(SLC5A1):c.1404G>C (p.Ala468=)
NM_000343.4(SLC5A1):c.1449+14G>A
NM_000343.4(SLC5A1):c.1450-18C>T
NM_000343.4(SLC5A1):c.1450-5del
NM_000343.4(SLC5A1):c.1471C>T (p.Leu491=)
NM_000343.4(SLC5A1):c.1506T>C (p.Thr502=)
NM_000343.4(SLC5A1):c.1518T>C (p.Tyr506=)
NM_000343.4(SLC5A1):c.153T>C (p.Asn51=) rs2149483365
NM_000343.4(SLC5A1):c.1542C>T (p.Pro514=) rs2149497542
NM_000343.4(SLC5A1):c.1557G>C (p.Thr519=)
NM_000343.4(SLC5A1):c.1581G>A (p.Leu527=)
NM_000343.4(SLC5A1):c.1605C>A (p.Ala535=) rs1185265550
NM_000343.4(SLC5A1):c.1623C>T (p.Ile541=)
NM_000343.4(SLC5A1):c.162T>C (p.Thr54=)
NM_000343.4(SLC5A1):c.1656G>A (p.Pro552=)
NM_000343.4(SLC5A1):c.1665+19G>C
NM_000343.4(SLC5A1):c.1666-10T>C
NM_000343.4(SLC5A1):c.1666-13G>A
NM_000343.4(SLC5A1):c.1666-20C>G
NM_000343.4(SLC5A1):c.1674T>C (p.Arg558=)
NM_000343.4(SLC5A1):c.1689G>A (p.Leu563=)
NM_000343.4(SLC5A1):c.1692C>T (p.Arg564=)
NM_000343.4(SLC5A1):c.171C>T (p.Gly57=)
NM_000343.4(SLC5A1):c.1771+14C>G
NM_000343.4(SLC5A1):c.1771+20A>G
NM_000343.4(SLC5A1):c.1772-14A>G
NM_000343.4(SLC5A1):c.1772-6G>A rs201685531
NM_000343.4(SLC5A1):c.1833G>A (p.Gly611=)
NM_000343.4(SLC5A1):c.1845C>T (p.His615=)
NM_000343.4(SLC5A1):c.1872G>A (p.Glu624=)
NM_000343.4(SLC5A1):c.1920G>A (p.Leu640=) rs1326329755
NM_000343.4(SLC5A1):c.1941C>T (p.Val647=)
NM_000343.4(SLC5A1):c.1956G>C (p.Leu652=)
NM_000343.4(SLC5A1):c.1962C>T (p.Thr654=)
NM_000343.4(SLC5A1):c.207+19G>C
NM_000343.4(SLC5A1):c.208-13T>C
NM_000343.4(SLC5A1):c.208-16T>C
NM_000343.4(SLC5A1):c.208-20A>C
NM_000343.4(SLC5A1):c.208-9C>T
NM_000343.4(SLC5A1):c.216C>T (p.Ala72=) rs2149487752
NM_000343.4(SLC5A1):c.231T>C (p.Ser77=)
NM_000343.4(SLC5A1):c.246C>T (p.Gly82=)
NM_000343.4(SLC5A1):c.264C>T (p.Ala88=)
NM_000343.4(SLC5A1):c.312+17C>A rs2149487784
NM_000343.4(SLC5A1):c.312+18C>A
NM_000343.4(SLC5A1):c.312+19A>G
NM_000343.4(SLC5A1):c.330T>G (p.Val110=)
NM_000343.4(SLC5A1):c.336G>A (p.Leu112=)
NM_000343.4(SLC5A1):c.33C>T (p.Thr11=)
NM_000343.4(SLC5A1):c.357C>T (p.Ile119=)
NM_000343.4(SLC5A1):c.369T>C (p.Ala123=) rs1569304938
NM_000343.4(SLC5A1):c.36G>C (p.Ala12=) rs148720069
NM_000343.4(SLC5A1):c.372+15T>G
NM_000343.4(SLC5A1):c.372+7_372+8del rs1374768105
NM_000343.4(SLC5A1):c.372+8T>G rs1443237221
NM_000343.4(SLC5A1):c.373-7del rs778194598
NM_000343.4(SLC5A1):c.373-8C>T
NM_000343.4(SLC5A1):c.420G>A (p.Arg140=)
NM_000343.4(SLC5A1):c.429C>T (p.Val143=)
NM_000343.4(SLC5A1):c.447C>G (p.Ser149=) rs771248492
NM_000343.4(SLC5A1):c.474C>A (p.Ile158=)
NM_000343.4(SLC5A1):c.477+15C>T
NM_000343.4(SLC5A1):c.478-13C>T
NM_000343.4(SLC5A1):c.478-15C>G
NM_000343.4(SLC5A1):c.478-15C>T
NM_000343.4(SLC5A1):c.478-16T>C
NM_000343.4(SLC5A1):c.478-19G>A
NM_000343.4(SLC5A1):c.478-7dup rs33982670
NM_000343.4(SLC5A1):c.492G>T (p.Ser164=)
NM_000343.4(SLC5A1):c.519A>G (p.Leu173=)
NM_000343.4(SLC5A1):c.531G>A (p.Leu177=)
NM_000343.4(SLC5A1):c.54G>A (p.Glu18=)
NM_000343.4(SLC5A1):c.573C>T (p.Tyr191=)
NM_000343.4(SLC5A1):c.584-19T>C
NM_000343.4(SLC5A1):c.584-4T>A
NM_000343.4(SLC5A1):c.584-5C>T
NM_000343.4(SLC5A1):c.584-6G>A rs200525887
NM_000343.4(SLC5A1):c.594G>A (p.Ala198=) rs184213779
NM_000343.4(SLC5A1):c.597G>A (p.Ala199=)
NM_000343.4(SLC5A1):c.600G>C (p.Val200=)
NM_000343.4(SLC5A1):c.652C>T (p.Leu218=)
NM_000343.4(SLC5A1):c.665-12G>A
NM_000343.4(SLC5A1):c.665-13C>T
NM_000343.4(SLC5A1):c.672C>T (p.His224=)
NM_000343.4(SLC5A1):c.690C>T (p.Asp230=)
NM_000343.4(SLC5A1):c.708C>T (p.Tyr236=)
NM_000343.4(SLC5A1):c.75T>C (p.Asn25=)
NM_000343.4(SLC5A1):c.862T>C (p.Leu288=)
NM_000343.4(SLC5A1):c.885+16G>A
NM_000343.4(SLC5A1):c.885+19C>G rs200815762
NM_000343.4(SLC5A1):c.885+19C>T
NM_000343.4(SLC5A1):c.915G>A (p.Lys305=)
NM_000343.4(SLC5A1):c.942C>T (p.Cys314=)
NM_000343.4(SLC5A1):c.948G>A (p.Leu316=)
NM_000343.4(SLC5A1):c.951T>C (p.Cys317=) rs2149492454
NM_000343.4(SLC5A1):c.963G>A (p.Lys321=)
NM_000343.4(SLC5A1):c.987G>T (p.Val329=)
NM_000343.4(SLC5A1):c.993A>G (p.Pro331=)

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