ClinVar Miner

List of variants reported for Presynaptic congenital myasthenic syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005560.6(LAMA5):c.2323+1G>A	rs370966549	0.00006
NM_005560.6(LAMA5):c.152A>G (p.Asn51Ser)	rs549102085

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