List of variants studied for congenital myasthenic syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)	rs2229194	0.00305
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	rs104894299	0.00149
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)	rs370966353	0.00026
NM_000540.3(RYR1):c.4236C>G (p.His1412Gln)	rs146206507	0.00005
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)	rs104894294	0.00002
NM_000079.4(CHRNA1):c.766C>A (p.Pro256Thr)	rs1683899724
NM_000080.4(CHRNE):c.3G>A (p.Met1Ile)	rs1970039895
NM_000080.4(CHRNE):c.439G>A (p.Val147Ile)	rs771950733
NM_000747.3(CHRNB1):c.686_687insGGG (p.Gly230dup)	rs1908762515
NM_000747.3(CHRNB1):c.687_688insT (p.Gly230fs)	rs1908762801
NM_001145536.2(C17orf107):c.562G>C (p.Gly188Arg)	rs1490577163
NM_144988.4(ALG14):c.421G>A (p.Val141Met)	rs946253637
NM_177402.5(SYT2):c.358G>A (p.Ala120Thr)	rs987703370
NM_198576.4(AGRN):c.1177+4_1177+50del	rs765679438

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