ClinVar Miner

List of variants reported as uncertain significance for Myasthenic syndrome, congenital, 24, presynaptic by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006901.4(MYO9A):c.2375A>C (p.Gln792Pro)	rs113754851	0.00003
NM_006901.4(MYO9A):c.5701C>T (p.Arg1901Trp)	rs765977909	0.00001

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