ClinVar Miner

List of variants studied for Cardiomyopathy by Clinical Genetics Laboratory, Skane University Hospital Lund

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile) rs958480279 0.00002
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00001
NM_000256.3(MYBPC3):c.223dup (p.Asp75fs) rs2095900669
NM_000257.4(MYH7):c.3157C>T (p.Arg1053Trp) rs730880903

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