List of variants in gene combination GH-LCR, SCN4A reported as benign for congenital myopathy

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: 34

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.*710T>C	rs2532111	0.67728
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp)	rs2058194	0.59717
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=)	rs2070720	0.43390
NM_000334.4(SCN4A):c.3318+12C>A	rs13341114	0.26769
NM_000334.4(SCN4A):c.*1427T>C	rs2727278	0.18159
NM_000334.4(SCN4A):c.*1271T>A	rs2727277	0.18122
NM_000334.4(SCN4A):c.*22A>G	rs2228995	0.17899
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=)	rs56342400	0.16783
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=)	rs2227906	0.15916
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=)	rs2227907	0.12581
NM_000334.4(SCN4A):c.*563G>A	rs2532112	0.08626
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=)	rs79893125	0.08466
NM_000334.4(SCN4A):c.*1737A>G	rs16947276	0.06978
NM_000334.4(SCN4A):c.*1357A>G	rs113012761	0.05971
NM_000334.4(SCN4A):c.*122G>A	rs2228997	0.05774
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=)	rs73992419	0.03148
NM_000334.4(SCN4A):c.4288+10G>T	rs114059193	0.03137
NM_000334.4(SCN4A):c.3720+10A>G	rs111679484	0.02281
NM_000334.4(SCN4A):c.*1611A>G	rs16947280	0.02126
NM_000334.4(SCN4A):c.2989+5G>A	rs115695396	0.02066
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=)	rs72851170	0.01961
NM_000334.4(SCN4A):c.4017+15G>T	rs77844100	0.01755
NM_000334.4(SCN4A):c.*1368G>C	rs113385942	0.01686
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=)	rs59081944	0.01571
NM_000334.4(SCN4A):c.*332C>T	rs77962116	0.01507
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=)	rs76894284	0.01359
NM_000334.4(SCN4A):c.*1989C>T	rs77615646	0.00968
NM_000334.4(SCN4A):c.3720+9G>T	rs9303466	0.00769
NM_000334.4(SCN4A):c.*1088A>G	rs77725962	0.00759
NM_000334.4(SCN4A):c.3441+7G>A	rs142270113	0.00738
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=)	rs116469710	0.00716
NM_000334.4(SCN4A):c.*1215G>A	rs112758825	0.00696
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys)	rs117664682	0.00186
NM_000334.4(SCN4A):c.*981G>A	rs144800677

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