ClinVar Miner

List of variants reported as likely pathogenic for congenital myasthenic syndrome with tubular aggregates by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (6):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys)	rs746187785	0.00001
NM_001382.4(DPAGT1):c.1097T>C (p.Leu366Ser)	rs2134898234

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