ClinVar Miner

List of variants studied for Maturity-onset diabetes of the young type 3 by Institute of Experimental Endocrinology, Slovak Academy of Sciences

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser) rs759717253 0.00001
NM_000545.8(HNF1A):c.1369_1384dup (p.Val462fs) rs2135847592
NM_000545.8(HNF1A):c.737T>G (p.Val246Gly) rs2135841238

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