ClinVar Miner

List of variants reported as likely pathogenic for Maturity-onset diabetes of the young, type 3

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Total variants: 27
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HGVS dbSNP
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp) rs193922598
NM_000545.6(HNF1A):c.1129del (p.Leu377fs) rs193922576
NM_000545.6(HNF1A):c.1265T>C (p.Leu422Pro) rs193922577
NM_000545.6(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.6(HNF1A):c.1501+1G>A rs1131692182
NM_000545.6(HNF1A):c.1504_1505CT[3] (p.Tyr503fs) rs193922582
NM_000545.6(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587
NM_000545.6(HNF1A):c.169del (p.Leu57fs) rs193922588
NM_000545.6(HNF1A):c.1745A>G (p.His582Arg) rs193922589
NM_000545.6(HNF1A):c.1822_1829del (p.Ser608fs) rs1555212749
NM_000545.6(HNF1A):c.1A>G (p.Met1Val) rs193922592
NM_000545.6(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
NM_000545.6(HNF1A):c.29C>T (p.Thr10Met) rs774637975
NM_000545.6(HNF1A):c.313dup (p.Glu105fs) rs193922594
NM_000545.6(HNF1A):c.369_371GCA[4] (p.Gln125dup) rs193922596
NM_000545.6(HNF1A):c.441C>A (p.His147Gln) rs193922597
NM_000545.6(HNF1A):c.467C>T (p.Thr156Met) rs150513055
NM_000545.6(HNF1A):c.518_526+37del rs386134267
NM_000545.6(HNF1A):c.663_665GAA[1] (p.Lys222del) rs193922599
NM_000545.6(HNF1A):c.670C>T (p.Pro224Ser) rs193922600
NM_000545.6(HNF1A):c.676_678del (p.Lys226del) rs1555211927
NM_000545.6(HNF1A):c.731G>T (p.Arg244Ile) rs193922602
NM_000545.6(HNF1A):c.734G>T (p.Gly245Val) rs193922603
NM_000545.6(HNF1A):c.790G>T (p.Val264Phe) rs193922604
NM_000545.6(HNF1A):c.803T>C (p.Phe268Ser) rs193922605
NM_000545.6(HNF1A):c.827C>G (p.Ala276Gly) rs137853245
NM_000545.6(HNF1A):c.872C>G (p.Pro291Arg) rs193922606

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