ClinVar Miner

List of variants reported as benign for carbohydrate metabolism disease by Research and Development, ARUP Laboratories

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.*203C>T rs75958979
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811
NM_000155.4(GALT):c.1059+36T>A rs111033820
NM_000155.4(GALT):c.117T>C (p.Asp39=) rs111033642
NM_000155.4(GALT):c.184C>A (p.Leu62Met) rs1800461
NM_000155.4(GALT):c.328+29G>C rs111033671
NM_000155.4(GALT):c.330A>T (p.Gly110=) rs111033672
NM_000155.4(GALT):c.33C>T (p.Arg11=) rs111033633
NM_000155.4(GALT):c.378-27G>C rs41274865
NM_000155.4(GALT):c.495C>T (p.Tyr165=) rs111033707
NM_000155.4(GALT):c.507+62G>A rs2277202
NM_000155.4(GALT):c.508-11C>A rs111033712
NM_000155.4(GALT):c.508-11C>G rs111033712
NM_000155.4(GALT):c.508-24G>A rs41274867
NM_000155.4(GALT):c.508-38T>C rs111033706
NM_000155.4(GALT):c.510C>T (p.Ile170=) rs61735984
NM_000155.4(GALT):c.564+15G>A rs111033732
NM_000155.4(GALT):c.564+32T>A rs111033733
NM_000155.4(GALT):c.583C>T (p.Leu195=) rs111033727
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.699C>A (p.Val233=) rs111033756
NM_000155.4(GALT):c.753C>T (p.Tyr251=) rs367543261
NM_000155.4(GALT):c.759A>N (p.Thr253=) rs1554709425
NM_000155.4(GALT):c.803C>A (p.Thr268Asn) rs111033847
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.820+23T>G rs111033771
NM_000155.4(GALT):c.821-46G>T rs111033776
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.954G>A (p.Leu318=) rs111033789
NM_000155.4(GALT):c.972T>C (p.Pro324=) rs111033793
NM_001370658.1(BTD):c.-94C>T rs114567021
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641
NM_001370658.1(BTD):c.151C>T (p.Leu51=) rs397514342
NM_001370658.1(BTD):c.174C>T (p.Ser58=) rs397514344
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799
NM_001370658.1(BTD):c.384C>A (p.Arg128=) rs397514358
NM_001370658.1(BTD):c.39C>T (p.Cys13=) rs201564216
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314

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