ClinVar Miner

List of variants in gene HNF1A reported as uncertain significance by GeneDx

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000545.5(HNF1A):c.-467C>T rs1039479235 0.00029
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr) rs373857078 0.00017
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 0.00016
NM_000545.8(HNF1A):c.-181G>A rs980850048 0.00007
NM_000545.8(HNF1A):c.1504C>G (p.Leu502Val) rs924150546 0.00002
NC_000012.12:g.120978493A>G rs1876057794 0.00001
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr) rs765829022 0.00001
NC_000012.12:g.120978487A>G
NM_000545.8(HNF1A):c.-124G>C rs563304627
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1197G>C (p.Gln399His)
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497
NM_000545.8(HNF1A):c.1566G>T (p.Met522Ile) rs2135850753
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met) rs372624970
NM_000545.8(HNF1A):c.1762C>T (p.Pro588Ser) rs1029590003
NM_000545.8(HNF1A):c.217G>A (p.Glu73Lys)
NM_000545.8(HNF1A):c.247C>G (p.Pro83Ala) rs1201174446
NM_000545.8(HNF1A):c.361T>C (p.Ser121Pro) rs2135832515
NM_000545.8(HNF1A):c.458C>A (p.Pro153His)
NM_000545.8(HNF1A):c.461T>C (p.Met154Thr) rs2135832753
NM_000545.8(HNF1A):c.490A>C (p.Thr164Pro) rs772597940
NM_000545.8(HNF1A):c.518T>C (p.Val173Ala)
NM_000545.8(HNF1A):c.644T>C (p.Phe215Ser) rs2135839510
NM_000545.8(HNF1A):c.722G>A (p.Cys241Tyr) rs2135841113
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser) rs765829022
NM_000545.8(HNF1A):c.866C>G (p.Pro289Arg) rs267603343

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