ClinVar Miner

List of variants reported as likely pathogenic by Molecular Genetics, Madras Diabetes Research Foundation

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Total variants: 35
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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_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) rs797045209 0.00001
NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val) rs772094360 0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln) rs779184183 0.00001
NM_000207.3(INS):c.101A>C (p.His34Pro) rs1564912274
NM_000207.3(INS):c.103C>A (p.Leu35Met) rs1278232284
NM_000207.3(INS):c.143T>G (p.Phe48Cys) rs80356668
NM_000207.3(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000207.3(INS):c.287G>A (p.Cys96Tyr) rs80356671
NM_000207.3(INS):c.293G>T (p.Ser98Ile) rs2133672883
NM_000207.3(INS):c.322T>G (p.Tyr108Asp) rs2133672778
NM_000207.3(INS):c.326G>T (p.Cys109Phe) rs2133672742
NM_000207.3(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe) rs1554949196
NM_000352.6(ABCC8):c.1608T>A (p.Phe536Leu) rs753618932
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.3593C>T (p.Pro1198Leu) rs1554909277
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) rs80356637
NM_000352.6(ABCC8):c.4264T>A (p.Ser1422Thr) rs2133401009
NM_000352.6(ABCC8):c.4610A>G (p.His1537Arg) rs2133390317
NM_000352.6(ABCC8):c.61del (p.Val21fs) rs2133737961
NM_000352.6(ABCC8):c.634G>T (p.Asp212Tyr) rs2133680409
NM_000352.6(ABCC8):c.643G>A (p.Val215Ile) rs2133680286
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro) rs1048095
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000525.4(KCNJ11):c.1001G>T (p.Gly334Val) rs193929358
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) rs80356611
NM_000525.4(KCNJ11):c.190G>A (p.Val64Met) rs115716690
NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn) rs80356622
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys) rs587783672
NM_000525.4(KCNJ11):c.754G>T (p.Val252Leu) rs2133379609
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238

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