List of variants in gene SCN4A reported as likely benign by GeneDx

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: 40

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.1845+57C>T	rs60911788	0.01585
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.1796A>G (p.His599Arg)	rs187401185	0.00343
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)	rs41280110	0.00232
NM_000334.4(SCN4A):c.612-18C>A	rs377510393	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.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.1935C>T (p.Phe645=)	rs181494727	0.00009
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=)	rs760067411	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.204C>T (p.Tyr68=)	rs80266947	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.1593C>T (p.Ser531=)	rs139988178	0.00003
NM_000334.4(SCN4A):c.1947C>T (p.Ile649=)	rs564134251	0.00003
NM_000334.4(SCN4A):c.969G>A (p.Thr323=)	rs1429424012	0.00002
NM_000334.4(SCN4A):c.1000G>A (p.Asp334Asn)	rs766055241	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.1242+9del	rs1555604336
NM_000334.4(SCN4A):c.1452+8C>A	rs777701736
NM_000334.4(SCN4A):c.1606+236A>G	rs9904789
NM_000334.4(SCN4A):c.1606+254C>G	rs146000148
NM_000334.4(SCN4A):c.483-4C>G	rs200062384
NM_000334.4(SCN4A):c.483-5C>A	rs191547933

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