ClinVar Miner

List of variants in gene HNF1A reported as uncertain significance for Maturity onset diabetes mellitus in young

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.-5G>A rs370979090 0.00038
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_000545.8(HNF1A):c.1108-4G>A rs372892932 0.00020
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn) rs752219487 0.00011
NM_000545.8(HNF1A):c.185A>G (p.Asn62Ser) rs377129682 0.00010
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys) rs772222326 0.00009
NM_000545.8(HNF1A):c.1721G>A (p.Ser574Asn) rs773895173 0.00009
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys) rs483353044 0.00003
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp) rs1261968643 0.00002
NM_000545.8(HNF1A):c.1504C>G (p.Leu502Val) rs924150546 0.00002
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys) rs774996577 0.00001
NM_000545.8(HNF1A):c.557T>C (p.Ile186Thr) rs587778396 0.00001
NM_000545.8(HNF1A):c.901G>A (p.Ala301Thr) rs555681479 0.00001
NM_000545.8(HNF1A):c.1012G>A (p.Gly338Ser)
NM_000545.8(HNF1A):c.1060A>G (p.Thr354Ala) rs1877098583
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.8(HNF1A):c.1524G>T (p.Glu508Asp) rs1877291173
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala) rs587778393
NM_000545.8(HNF1A):c.1594G>A (p.Ala532Thr) rs1421619915
NM_000545.8(HNF1A):c.1623+3A>G rs886038347
NM_000545.8(HNF1A):c.1623G>C (p.Gln541His)
NM_000545.8(HNF1A):c.1687A>G (p.Thr563Ala) rs1877313665
NM_000545.8(HNF1A):c.1733del (p.Leu578fs) rs1592898227
NM_000545.8(HNF1A):c.205G>A (p.Gly69Ser)
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
NM_000545.8(HNF1A):c.355G>A (p.Val119Ile) rs1179591039
NM_000545.8(HNF1A):c.358A>G (p.Lys120Glu)
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup) rs193922596
NM_000545.8(HNF1A):c.431T>C (p.Leu144Pro)
NM_000545.8(HNF1A):c.490A>C (p.Thr164Pro) rs772597940
NM_000545.8(HNF1A):c.496T>C (p.Tyr166His)
NM_000545.8(HNF1A):c.526+2dup rs1555211448
NM_000545.8(HNF1A):c.663GAA[1] (p.Lys222del) rs193922599
NM_000545.8(HNF1A):c.713+10C>T
NM_000545.8(HNF1A):c.733G>A (p.Gly245Arg) rs2135841196
NM_000545.8(HNF1A):c.737T>C (p.Val246Ala) rs2135841238
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val) rs369764257

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