ClinVar Miner

List of variants in gene MYH9 reported as benign for Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002473.6(MYH9):c.3429T>G (p.Ala1143=) rs710181 0.97278
NM_002473.6(MYH9):c.1728+10G>A rs2413396 0.77118
NM_002473.6(MYH9):c.3837+25C>T rs4821478 0.61886
NM_002473.6(MYH9):c.1554+7A>G rs3752462 0.53193
NM_002473.6(MYH9):c.1728+37_1728+44del rs3842715 0.18442
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) rs2269529 0.17342
NM_002473.6(MYH9):c.4872G>T (p.Ala1624=) rs2269530 0.17309

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