ClinVar Miner

List of variants in gene GNS reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP
NM_002076.4(GNS):c.*2611dup rs201933913
NM_002076.4(GNS):c.*2751C>T rs137943279
NM_002076.4(GNS):c.*3068_*3069dup rs397946778
NM_002076.4(GNS):c.*599T>A rs151304792
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725
NM_002076.4(GNS):c.1029G>A (p.Leu343=) rs371914257
NM_002076.4(GNS):c.1071T>C (p.Pro357=)
NM_002076.4(GNS):c.1098+7G>A
NM_002076.4(GNS):c.1099-10A>G
NM_002076.4(GNS):c.1099-4A>T
NM_002076.4(GNS):c.1099-5C>T
NM_002076.4(GNS):c.1104G>T (p.Leu368=)
NM_002076.4(GNS):c.1140C>T (p.Asp380=) rs749616788
NM_002076.4(GNS):c.1152C>T (p.Tyr384=)
NM_002076.4(GNS):c.1155C>A (p.Asp385Glu)
NM_002076.4(GNS):c.1164G>A (p.Lys388=)
NM_002076.4(GNS):c.1189T>C (p.Leu397=)
NM_002076.4(GNS):c.1197T>C (p.Ile399=)
NM_002076.4(GNS):c.1200+7A>G
NM_002076.4(GNS):c.1201-4C>T
NM_002076.4(GNS):c.1201-7T>C rs771699876
NM_002076.4(GNS):c.1201-9T>C
NM_002076.4(GNS):c.1221C>T (p.Thr407=)
NM_002076.4(GNS):c.1266C>T (p.Asn422=)
NM_002076.4(GNS):c.1302C>T (p.Gly434=)
NM_002076.4(GNS):c.1305A>G (p.Val435=)
NM_002076.4(GNS):c.1309-6C>T
NM_002076.4(GNS):c.1317C>T (p.Phe439=)
NM_002076.4(GNS):c.132C>G (p.Thr44=) rs1592514574
NM_002076.4(GNS):c.1368G>A (p.Arg456=)
NM_002076.4(GNS):c.1381T>C (p.Leu461=)
NM_002076.4(GNS):c.1398T>C (p.Tyr466=)
NM_002076.4(GNS):c.1419+8G>A
NM_002076.4(GNS):c.1420-9G>A rs980133508
NM_002076.4(GNS):c.1434C>G (p.Val478=) rs141958901
NM_002076.4(GNS):c.1452C>T (p.Asp484=) rs1252524521
NM_002076.4(GNS):c.1453C>G (p.Pro485Ala) rs138790252
NM_002076.4(GNS):c.1473T>A (p.Ile491=)
NM_002076.4(GNS):c.1491A>G (p.Pro497=)
NM_002076.4(GNS):c.1506G>A (p.Lys502=)
NM_002076.4(GNS):c.1512C>T (p.Asn504=)
NM_002076.4(GNS):c.1518G>A (p.Arg506=)
NM_002076.4(GNS):c.1518G>T (p.Arg506=)
NM_002076.4(GNS):c.156C>T (p.Leu52=) rs951936514
NM_002076.4(GNS):c.1578C>T (p.Pro526=) rs753472052
NM_002076.4(GNS):c.1580+9C>G
NM_002076.4(GNS):c.1629G>A (p.Arg543=)
NM_002076.4(GNS):c.1654C>T (p.Leu552=)
NM_002076.4(GNS):c.1656G>A (p.Leu552=)
NM_002076.4(GNS):c.18A>G (p.Leu6=)
NM_002076.4(GNS):c.222C>T (p.Ile74=)
NM_002076.4(GNS):c.255T>C (p.Tyr85=)
NM_002076.4(GNS):c.279C>T (p.Pro93=) rs1592506570
NM_002076.4(GNS):c.297G>A (p.Leu99=)
NM_002076.4(GNS):c.300A>G (p.Thr100=)
NM_002076.4(GNS):c.30G>A (p.Arg10=) rs753033310
NM_002076.4(GNS):c.339T>A (p.Thr113=)
NM_002076.4(GNS):c.351C>T (p.Asn117=)
NM_002076.4(GNS):c.381A>G (p.Gln127=) rs374002057
NM_002076.4(GNS):c.393T>C (p.Thr131=)
NM_002076.4(GNS):c.39G>A (p.Arg13=)
NM_002076.4(GNS):c.459+10A>G
NM_002076.4(GNS):c.459+8G>A
NM_002076.4(GNS):c.45C>T (p.Ser15=)
NM_002076.4(GNS):c.462C>T (p.Tyr154=)
NM_002076.4(GNS):c.468C>A (p.Ala156=)
NM_002076.4(GNS):c.468C>T (p.Ala156=) rs147780685
NM_002076.4(GNS):c.498T>C (p.Pro166=)
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930
NM_002076.4(GNS):c.522C>T (p.Ala174=)
NM_002076.4(GNS):c.525+10T>C
NM_002076.4(GNS):c.528A>G (p.Glu176=)
NM_002076.4(GNS):c.54C>T (p.His18=)
NM_002076.4(GNS):c.552C>T (p.Tyr184=) rs375799237
NM_002076.4(GNS):c.558G>A (p.Leu186=)
NM_002076.4(GNS):c.55C>T (p.Leu19=)
NM_002076.4(GNS):c.577C>T (p.Arg193Trp) rs144220755
NM_002076.4(GNS):c.57G>A (p.Leu19=)
NM_002076.4(GNS):c.585T>C (p.His195=) rs1322850279
NM_002076.4(GNS):c.624+10A>G rs757526895
NM_002076.4(GNS):c.625-5G>C
NM_002076.4(GNS):c.627T>A (p.Ala209=)
NM_002076.4(GNS):c.633C>A (p.Val211=)
NM_002076.4(GNS):c.699G>A (p.Ala233=)
NM_002076.4(GNS):c.708G>A (p.Ser236=)
NM_002076.4(GNS):c.720T>G (p.Ala240=)
NM_002076.4(GNS):c.723A>C (p.Ala241=)
NM_002076.4(GNS):c.723A>G (p.Ala241=)
NM_002076.4(GNS):c.750T>C (p.Asn250=)
NM_002076.4(GNS):c.762A>G (p.Pro254=)
NM_002076.4(GNS):c.783C>T (p.Ile261=)
NM_002076.4(GNS):c.793-9A>G rs780164582
NM_002076.4(GNS):c.801C>T (p.His267=)
NM_002076.4(GNS):c.828A>G (p.Pro276=)
NM_002076.4(GNS):c.85C>T (p.Leu29=)
NM_002076.4(GNS):c.875+7G>A
NM_002076.4(GNS):c.875+9T>C
NM_002076.4(GNS):c.876-5del
NM_002076.4(GNS):c.876-8A>G
NM_002076.4(GNS):c.906T>C (p.Leu302=)
NM_002076.4(GNS):c.942G>A (p.Gly314=) rs376505567
NM_002076.4(GNS):c.960C>T (p.Tyr320=)
NM_002076.4(GNS):c.978C>T (p.Asp326=)
NM_002076.4(GNS):c.9C>T (p.Leu3=)

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