ClinVar Miner

List of variants reported as likely benign for Congenital Myasthenic Syndrome, Recessive

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581 0.01652
NM_000334.4(SCN4A):c.*670T>G rs148552329 0.00003
NM_001244710.2(GFPT1):c.*1974CA[8] rs751417979
NM_001244710.2(GFPT1):c.*3987_*3989del rs141942218
NM_001244710.2(GFPT1):c.1324+13del rs113734896

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