ClinVar Miner

List of variants reported as benign for carbohydrate metabolism disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000458.4(HNF1B):c.1654-22= rs3110641 0.67606
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000155.4(GALT):c.378-27G>C rs41274865 0.04615
NM_000155.4(GALT):c.508-24G>A rs41274867 0.04612
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607 0.02790
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_000458.4(HNF1B):c.345-19C>T rs59527848 0.00765
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357

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