List of variants studied for congenital myasthenic syndrome 15 by Genome-Nilou Lab

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_144988.4(ALG14):c.137-18T>A	rs12751061	0.07764
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr)	rs34364382	0.00753
NM_144988.4(ALG14):c.288+11A>G	rs151088933	0.00309
NM_144988.4(ALG14):c.182A>G (p.Asn61Ser)	rs138996965	0.00061
NM_144988.4(ALG14):c.532G>A (p.Val178Ile)	rs373069354	0.00012
NM_144988.4(ALG14):c.181A>G (p.Asn61Asp)	rs577399329	0.00009
NM_144988.4(ALG14):c.179C>G (p.Ser60Cys)	rs780277809	0.00006
NM_144988.4(ALG14):c.422T>G (p.Val141Gly)	rs139005007	0.00006
NM_144988.4(ALG14):c.140G>T (p.Gly47Val)	rs139758313	0.00004
NM_144988.4(ALG14):c.326G>A (p.Arg109Gln)	rs199689080	0.00004
NM_144988.4(ALG14):c.16G>A (p.Val6Ile)	rs756921157	0.00002
NM_144988.4(ALG14):c.248C>A (p.Ser83Tyr)	rs767402341	0.00001
NM_144988.4(ALG14):c.535G>A (p.Glu179Lys)	rs957188576	0.00001
NM_144988.4(ALG14):c.288+4A>G	rs2100841130
NM_144988.4(ALG14):c.323G>A (p.Ser108Asn)	rs1673848834
NM_144988.4(ALG14):c.599C>T (p.Pro200Leu)	rs1014644772
NM_144988.4(ALG14):c.626C>T (p.Ser209Leu)

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