List of variants in gene SCN8A reported as uncertain significance for infancy electroclinical syndrome

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser)	rs202006479	0.00017
NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys)	rs557559740	0.00001
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp)	rs1218269439	0.00001
NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr)	rs775833241	0.00001
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln)	rs756127631	0.00001
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His)	rs796053232	0.00001
NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile)	rs759753811	0.00001
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val)	rs764115258	0.00001
NM_001330260.2(SCN8A):c.5583G>C (p.Glu1861Asp)	rs1352614116	0.00001
NM_001330260.2(SCN8A):c.5613G>C (p.Glu1871Asp)	rs1230372504	0.00001
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met)	rs2138748384
NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser)	rs1160066733
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.2702A>G (p.Tyr901Cys)	rs1942829767
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val)	rs2138868846
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln)	rs1555226186
NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met)	rs1942911383
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
NM_001330260.2(SCN8A):c.4282-10C>G	rs369145855
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
NM_001330260.2(SCN8A):c.548G>C (p.Cys183Ser)	rs1941432230
NM_001330260.2(SCN8A):c.5499T>A (p.Asp1833Glu)	rs1198058104
NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)
NM_001330260.2(SCN8A):c.5872C>T (p.Gln1958Ter)	rs1555231189
NM_001330260.2(SCN8A):c.5924T>C (p.Val1975Ala)	rs1565934813
NM_014191.4(SCN8A):c.652G>T (p.Ala218Ser)	rs2138716131

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