ClinVar Miner

List of variants studied for Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.353C>T (p.Ser118Leu) rs1322526035 0.00001
NM_002471.4(MYH6):c.5459G>A (p.Arg1820Gln) rs371222772 0.00001
NM_002471.4(MYH6):c.-46-40G>A
NM_002471.4(MYH6):c.5032C>T (p.Arg1678Trp)
NM_002471.4(MYH6):c.5803dup (p.Met1935fs) rs768525215

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