ClinVar Miner

List of variants reported as benign for congenital myasthenic syndrome 12 by Genome-Nilou Lab

Included ClinVar conditions (2):

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_001244710.2(GFPT1):c.1105+7A>G	rs6722492	0.65895
NM_001244710.2(GFPT1):c.7+36T>C	rs6720415	0.57447
NM_001244710.2(GFPT1):c.408+30T>C	rs67760762

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