List of variants reported as likely pathogenic for carbohydrate metabolism disease by Molecular Genetics, Madras Diabetes Research Foundation

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met)	rs757068809	0.00006
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)	rs761749884	0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln)	rs779184183	0.00001
NM_000352.6(ABCC8):c.1del (p.Met1fs)	rs2133738442
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro)	rs1402090677
NM_000352.6(ABCC8):c.267del (p.Ile89fs)	rs2133728449
NM_000352.6(ABCC8):c.61del (p.Val21fs)	rs2133737961
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000545.8(HNF1A):c.815G>A (p.Arg272His)	rs137853238

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