List of variants in gene SCN8A reported as uncertain significance for Seizures, benign familial infantile, 5

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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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.5583G>C (p.Glu1861Asp)	rs1352614116	0.00001
NM_001330260.2(SCN8A):c.5613G>C (p.Glu1871Asp)	rs1230372504	0.00001
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.2702A>G (p.Tyr901Cys)	rs1942829767
NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met)	rs1942911383
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
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.5924T>C (p.Val1975Ala)	rs1565934813
NM_014191.4(SCN8A):c.652G>T (p.Ala218Ser)	rs2138716131

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