List of variants reported as likely pathogenic for congenital myasthenic syndrome 6 by Invitae

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_020549.5(CHAT):c.620G>A (p.Arg207His)	rs764497513	0.00003
NM_020549.5(CHAT):c.1492T>C (p.Ser498Pro)	rs1409506586	0.00002
NM_020549.5(CHAT):c.1516G>T (p.Val506Leu)	rs121912817	0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)	rs121912819	0.00001
NM_020549.5(CHAT):c.841C>T (p.Arg281Trp)	rs747108035	0.00001
NM_020549.5(CHAT):c.1060A>T (p.Thr354Ser)	rs2132735749
NM_020549.5(CHAT):c.1282-2A>T
NM_020549.5(CHAT):c.1383-1G>A	rs2132811750
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly)	rs121912818
NM_020549.5(CHAT):c.1663G>A (p.Glu555Lys)	rs757303526
NM_020549.5(CHAT):c.1678C>T (p.Arg560Cys)
NM_020549.5(CHAT):c.1721C>T (p.Thr574Ile)	rs1839995781
NM_020549.5(CHAT):c.1896_1918del (p.Ala633fs)	rs2132852540
NM_020549.5(CHAT):c.1977+1_1977+9del	rs1207292931
NM_020549.5(CHAT):c.698+1G>A
NM_020549.5(CHAT):c.698+1G>T
NM_020549.5(CHAT):c.698+2T>C
NM_020549.5(CHAT):c.753-2A>T

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