ClinVar Miner

List of variants studied for Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_000545.8(HNF1A):c.341G>A (p.Arg114His) rs139016696 0.00007
NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile) rs751368921 0.00001
NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497

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