List of variants in gene SCN8A reported as pathogenic by OMIM

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001330260.2(SCN8A):c.5156_5157del (p.Pro1719fs)	rs587776703	0.00003
NM_001330260.2(SCN8A):c.2890G>C (p.Gly964Arg)	rs1057521662
NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys)	rs876657399
NM_001330260.2(SCN8A):c.3652G>A (p.Glu1218Lys)	rs1555226823
NM_001330260.2(SCN8A):c.3991C>G (p.Leu1331Val)	rs397514738
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser)	rs863223345
NM_001330260.2(SCN8A):c.4397A>C (p.Asn1466Thr)	rs587777723
NM_001330260.2(SCN8A):c.4398C>A (p.Asn1466Lys)	rs587777722
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys)	rs879255652
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)	rs587777721
NM_001330260.2(SCN8A):c.5156C>G (p.Pro1719Arg)	rs1565934070
NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp)	rs202151337
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	rs587780455
NM_014191.4(SCN8A):c.667A>G (p.Arg223Gly)	rs672601319

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