ClinVar Miner

List of variants studied for Maturity onset diabetes mellitus in young by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00008
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) rs193922472 0.00006
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp) rs193922477 0.00004
NM_000458.4(HNF1B):c.100C>T (p.Leu34=) rs373201245 0.00003
NM_000458.4(HNF1B):c.345-11T>G rs200782591 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
NM_000458.4(HNF1B):c.202G>C (p.Gly68Arg) rs767576616
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.662A>T (p.Asp221Val)
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544

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