List of variants studied for Congenital myasthenic syndrome 8 by 3billion

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_198576.4(AGRN):c.1864C>T (p.Arg622Trp)	rs142143178	0.00019
NM_198576.4(AGRN):c.4061C>A (p.Thr1354Asn)	rs766470739	0.00017
NM_198576.4(AGRN):c.3958G>A (p.Gly1320Arg)	rs780180385	0.00015
NM_198576.4(AGRN):c.183G>C (p.Gln61His)	rs951245406	0.00010
NM_198576.4(AGRN):c.6022G>A (p.Ala2008Thr)	rs766962416	0.00005
NM_198576.4(AGRN):c.1553C>T (p.Thr518Met)	rs746322262	0.00003
NM_198576.4(AGRN):c.1891G>A (p.Val631Met)	rs748716996	0.00001
NM_198576.4(AGRN):c.3001C>A (p.Pro1001Thr)	rs752212460

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