ClinVar Miner

List of variants in gene combination C12orf43, HNF1A reported as uncertain significance for Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile) rs146855738 0.00006
NM_000545.8(HNF1A):c.1774T>C (p.Ser592Pro) rs1352126690 0.00002
NM_000545.8(HNF1A):c.1769T>C (p.Val590Ala) rs928744634 0.00001
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr) rs200120574 0.00001
NM_000545.8(HNF1A):c.1824C>G (p.Ser608Arg) rs1877445147 0.00001
NM_000545.8(HNF1A):c.1789C>T (p.Leu597=)
NM_000545.8(HNF1A):c.1810A>G (p.Ser604Gly)
NM_000545.8(HNF1A):c.1812C>G (p.Ser604Arg)
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr) rs2135854619
NM_000545.8(HNF1A):c.1838C>T (p.Ser613Phe)
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met) rs193922591
NM_000545.8(HNF1A):c.1864A>C (p.Ile622Leu)
NM_000545.8(HNF1A):c.1877T>A (p.Met626Lys)

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