List of variants in gene SCN4A reported as likely benign for congenital myasthenic syndrome 16

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)	rs80338952	0.01562
NM_000334.4(SCN4A):c.1606+20G>A	rs73326363	0.00787
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)	rs187401185	0.00343
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)	rs41280110	0.00232
NM_000334.4(SCN4A):c.1453-4A>G	rs111818485	0.00209
NM_000334.4(SCN4A):c.1607-17T>C	rs202103551	0.00032
NM_000334.4(SCN4A):c.1101-16C>T	rs376459843	0.00024
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg)	rs182691342	0.00021
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val)	rs149907018	0.00011
NM_000334.4(SCN4A):c.1607-20T>C	rs374159735	0.00010
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=)	rs181494727	0.00009
NM_000334.4(SCN4A):c.1845+12del	rs756462178	0.00008
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=)	rs760067411	0.00005
NM_000334.4(SCN4A):c.704-8G>A	rs762393514	0.00005
NM_000334.4(SCN4A):c.1017C>T (p.Asp339=)	rs375655445	0.00004
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=)	rs80266947	0.00004
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=)	rs201411232	0.00004
NM_000334.4(SCN4A):c.939C>T (p.Tyr313=)	rs761930114	0.00004
NM_000334.4(SCN4A):c.1845+11G>T	rs761523703	0.00002
NM_000334.4(SCN4A):c.483-7C>T	rs780933125	0.00002
NM_000334.4(SCN4A):c.1560G>A (p.Pro520=)	rs373819078	0.00001
NM_000334.4(SCN4A):c.1755C>T (p.Thr585=)	rs1208231013	0.00001
NM_000334.4(SCN4A):c.1923T>C (p.Gly641=)	rs543151915	0.00001
NM_000334.4(SCN4A):c.228C>T (p.Ile76=)	rs1189122757	0.00001
NM_000334.4(SCN4A):c.273+7G>A	rs369039376	0.00001
NM_000334.4(SCN4A):c.1845+18A>T	rs775429476
NM_000334.4(SCN4A):c.393-6C>A	rs373185863
NM_000334.4(SCN4A):c.448A>C (p.Met150Leu)	rs543502873
NM_000334.4(SCN4A):c.483-4C>G	rs200062384

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