ClinVar Miner

List of variants reported as benign for myasthenic syndrome, congenital, 24, presynaptic by Genome-Nilou Lab

Included ClinVar conditions (1):

Myasthenic syndrome, congenital, 24, presynaptic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006901.4(MYO9A):c.3578G>A (p.Gly1193Glu)	rs2415129	0.92238
NM_006901.4(MYO9A):c.3771A>G (p.Arg1257=)	rs2415128	0.67515
NM_006901.4(MYO9A):c.1253+24A>G	rs2200056	0.19050

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