List of variants in gene combination LOC102724058, SCN1A reported as uncertain significance by Athena Diagnostics Inc

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe)	rs768638174	0.00004
NM_001165963.4(SCN1A):c.3506T>C (p.Val1169Ala)	rs1380673643	0.00001
NM_001165963.4(SCN1A):c.4002+6A>G	rs1553529408
NM_001165963.4(SCN1A):c.4230T>G (p.Asn1410Lys)	rs1691043368
NM_001165963.4(SCN1A):c.4476G>C (p.Lys1492Asn)
NM_001165963.4(SCN1A):c.4487A>C (p.Gln1496Pro)	rs2105462677
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser)	rs121918764
NM_001165963.4(SCN1A):c.4821T>G (p.Phe1607Leu)	rs1241198360
NM_001165963.4(SCN1A):c.4918C>T (p.Leu1640Phe)	rs1553520463
NM_001165963.4(SCN1A):c.4952A>C (p.Lys1651Thr)	rs1553520446
NM_001165963.4(SCN1A):c.5117A>G (p.Asn1706Ser)	rs1553520340
NM_001165963.4(SCN1A):c.5513C>G (p.Pro1838Arg)	rs1553520084

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