List of variants in gene combination LOC114803470, SCN8A reported as uncertain significance 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001330260.2(SCN8A):c.82C>T (p.Arg28Cys)	rs768570935	0.00002
NM_001330260.2(SCN8A):c.11G>A (p.Arg4Gln)	rs751889285	0.00001
NM_001330260.2(SCN8A):c.133C>T (p.Arg45Trp)	rs373541157	0.00001
NM_001330260.2(SCN8A):c.142G>A (p.Asp48Asn)	rs757582223
NM_001330260.2(SCN8A):c.158C>G (p.Pro53Arg)	rs1057524711
NM_001330260.2(SCN8A):c.168C>G (p.Asn56Lys)	rs1940955072
NM_001330260.2(SCN8A):c.182C>T (p.Ala61Val)	rs2138671327
NM_001330260.2(SCN8A):c.197C>G (p.Pro66Arg)	rs1940955829
NM_001330260.2(SCN8A):c.19G>C (p.Ala7Pro)	rs896109778
NM_001330260.2(SCN8A):c.208G>A (p.Gly70Arg)	rs1313776714
NM_001330260.2(SCN8A):c.21A>C (p.Ala7=)	rs2138670894
NM_001330260.2(SCN8A):c.260A>G (p.Tyr87Cys)	rs2138671507
NM_001330260.2(SCN8A):c.276A>G (p.Lys92=)	rs940189587
NM_001330260.2(SCN8A):c.50_55del (p.Phe17_Pro19delinsSer)	rs2138670960

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