ClinVar Miner

List of variants reported as uncertain significance for Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002473.6(MYH9):c.5081G>A (p.Arg1694His) rs538330756 0.00006
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234 0.00006
NM_002473.6(MYH9):c.1730T>C (p.Val577Ala) rs1479935984 0.00001
NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr) rs748946434 0.00001
NM_002473.6(MYH9):c.4261G>A (p.Glu1421Lys) rs1569534914
NM_002473.6(MYH9):c.4552A>C (p.Lys1518Gln) rs1603482802
NM_002473.6(MYH9):c.4906G>A (p.Ala1636Thr) rs1603482785
NM_002473.6(MYH9):c.5275-7_5275-5del rs780656298
NM_002473.6(MYH9):c.658G>A (p.Ala220Thr) rs1556637683

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