List of variants in gene SCN4A reported as likely benign for not provided

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: 46

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.1845+57C>T	rs60911788	0.01585
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)	rs80338952	0.01562
NM_000334.4(SCN4A):c.1036+84_1036+85insG	rs550986247	0.00842
NM_000334.4(SCN4A):c.1846-275C>T	rs111909623	0.00762
NM_000334.4(SCN4A):c.1036+197C>T	rs139534530	0.00594
NM_000334.4(SCN4A):c.1606+54C>G	rs73326361	0.00544
NM_000334.4(SCN4A):c.483-21G>A	rs9892202	0.00505
NM_000334.4(SCN4A):c.2019+188C>T	rs146505658	0.00403
NM_000334.4(SCN4A):c.1845+3A>G	rs1326121968	0.00350
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.1100+7G>A	rs200770684	0.00212
NM_000334.4(SCN4A):c.1453-4A>G	rs111818485	0.00209
NM_000334.4(SCN4A):c.248T>C (p.Leu83Pro)	rs147352060	0.00141
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=)	rs372791798	0.00112
NM_000334.4(SCN4A):c.318C>T (p.Ser106=)	rs138670794	0.00089
NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg)	rs181292216	0.00069
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)	rs185941768	0.00059
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)	rs199676994	0.00059
NM_000334.4(SCN4A):c.999C>T (p.Asn333=)	rs149726115	0.00056
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)	rs148028364	0.00042
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=)	rs201199086	0.00026
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg)	rs182691342	0.00021
NM_000334.4(SCN4A):c.963C>T (p.Asn321=)	rs748863960	0.00016
NM_000334.4(SCN4A):c.1461C>T (p.Ala487=)	rs541858248	0.00005
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=)	rs760067411	0.00005
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys)	rs150158100	0.00005
NM_000334.4(SCN4A):c.1017C>T (p.Asp339=)	rs375655445	0.00004
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile)	rs527384137	0.00004
NM_000334.4(SCN4A):c.274-30C>G	rs371946667	0.00004
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=)	rs201411232	0.00004
NM_000334.4(SCN4A):c.1947C>T (p.Ile649=)	rs564134251	0.00003
NM_000334.4(SCN4A):c.1000G>A (p.Asp334Asn)	rs766055241	0.00001
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=)	rs376538198	0.00001
NM_000334.4(SCN4A):c.172T>C (p.Leu58=)	rs566620453	0.00001
NM_000334.4(SCN4A):c.786C>T (p.Ser262=)	rs746749167	0.00001
NM_000334.4(SCN4A):c.1037-156G>A	rs74380139
NM_000334.4(SCN4A):c.1038G>A (p.Gly346=)
NM_000334.4(SCN4A):c.1068T>C (p.Asp356=)	rs778654878
NM_000334.4(SCN4A):c.1242+9del	rs1555604336
NM_000334.4(SCN4A):c.1473G>A (p.Leu491=)
NM_000334.4(SCN4A):c.1606+236A>G	rs9904789
NM_000334.4(SCN4A):c.1606+254C>G	rs146000148
NM_000334.4(SCN4A):c.483-5C>A	rs191547933
NM_000334.4(SCN4A):c.612-7T>C	rs1279854411
NM_000334.4(SCN4A):c.704-6G>C	rs368225907

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.