ClinVar Miner

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

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Total variants: 55
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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.1792C>T (p.Arg598Ter) rs139328569 0.00002
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_000525.4(KCNJ11):c.1084G>A (p.Ala362Thr) rs755839409 0.00001
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys) rs774996577 0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln) rs779184183 0.00001
NM_000545.8(HNF1A):c.901G>A (p.Ala301Thr) rs555681479 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.1330C>T (p.Gln444Ter) rs2133616750
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.208G>C (p.Gly70Arg) rs764349043
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro) rs1402090677
NM_000352.6(ABCC8):c.2539G>A (p.Ala847Thr) rs561593131
NM_000352.6(ABCC8):c.267del (p.Ile89fs) rs2133728449
NM_000352.6(ABCC8):c.2694G>A (p.Trp898Ter) rs2133460799
NM_000352.6(ABCC8):c.2912A>T (p.Glu971Val) rs1431503235
NM_000352.6(ABCC8):c.2974C>T (p.Arg992Cys) rs1954577653
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.4361T>G (p.Leu1454Arg) rs2133398519
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_000458.4(HNF1B):c.961A>G (p.Asn321Asp) rs1208894321
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.175G>A (p.Val59Met) rs80356616
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.601C>T (p.Arg201Cys) rs80356625
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) rs80356624
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.338G>A (p.Trp113Ter) rs2135832456
NM_000545.8(HNF1A):c.511C>G (p.Arg171Gly) rs1057520291
NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln) rs1353807357
NM_000545.8(HNF1A):c.733G>A (p.Gly245Arg) rs2135841196
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238

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