ClinVar Miner

List of variants in gene MYH9 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002473.6(MYH9):c.1519G>A (p.Asp507Asn) rs377410439 0.00003
NM_002473.6(MYH9):c.5695G>A (p.Glu1899Lys) rs747131828 0.00003
NM_002473.6(MYH9):c.4025G>A (p.Arg1342Gln) rs758159686 0.00002
NM_002473.6(MYH9):c.3605C>T (p.Ala1202Val) rs772915368 0.00001
NM_002473.6(MYH9):c.4298G>A (p.Arg1433His) rs530533580 0.00001
NM_002473.6(MYH9):c.5564G>A (p.Arg1855Gln) rs746568745 0.00001
NM_002473.6(MYH9):c.1051A>G (p.Asn351Asp)
NM_002473.6(MYH9):c.1270C>T (p.Arg424Trp) rs2017156815
NM_002473.6(MYH9):c.2230-5C>T
NM_002473.6(MYH9):c.2285_2288delinsGGCCACA (p.Phe762_Phe763delinsTrpProHis) rs2146346655
NM_002473.6(MYH9):c.3683A>T (p.Glu1228Val) rs2146337505
NM_002473.6(MYH9):c.4913A>G (p.Lys1638Arg)
NM_002473.6(MYH9):c.5425A>C (p.Ile1809Leu)
NM_002473.6(MYH9):c.5483+4C>A
NM_002473.6(MYH9):c.5592+6G>A
NM_002473.6(MYH9):c.5710A>G (p.Thr1904Ala)
NM_002473.6(MYH9):c.869-4dup

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