ClinVar Miner

List of variants studied for Restrictive cardiomyopathy; Long QT syndrome by Blueprint Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)	rs201492706	0.00048
NM_182914.3(SYNE2):c.20630C>T (p.Ser6877Phe)	rs548596262	0.00001
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile)	rs730880090

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