ClinVar Miner

List of variants in gene HNF1A reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000545.6(HNF1A):c.-567G>A rs919294498 0.00083
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000545.8(HNF1A):c.-89T>C rs767550584 0.00074
NM_000545.8(HNF1A):c.-5G>A rs370979090 0.00038
NM_000545.8(HNF1A):c.1501+6C>T rs374306837 0.00035
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala) rs139712739 0.00024
NM_000545.8(HNF1A):c.-96T>G rs576862555 0.00013
NM_000545.8(HNF1A):c.521C>T (p.Ala174Val) rs201934320 0.00013
NM_000545.8(HNF1A):c.341G>A (p.Arg114His) rs139016696 0.00007
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val) rs143753579 0.00004
NM_000545.6(HNF1A):c.-291T>C rs534474388 0.00001
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr) rs1403526456 0.00001
NM_000545.8(HNF1A):c.1168G>A (p.Glu390Lys) rs1877115047 0.00001
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr) rs765829022 0.00001
NM_000545.6(HNF1A):c.-343del rs1007340657
NM_000545.8(HNF1A):c.1018C>T (p.Pro340Ser)
NM_000545.8(HNF1A):c.1114G>A (p.Ala372Thr) rs587780356
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala) rs587778393
NM_000545.8(HNF1A):c.24_35dup (p.Gln9_Leu12dup) rs2135819368
NM_000545.8(HNF1A):c.309G>T (p.Val103=) rs1374173552
NM_000545.8(HNF1A):c.415C>T (p.Leu139Phe) rs1475566248
NM_000545.8(HNF1A):c.629C>T (p.Ser210Phe) rs2135839404
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser) rs1555212006
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val) rs369764257

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