List of variants in gene 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln)	rs150154265	0.00005
NM_001165963.4(SCN1A):c.1220T>C (p.Ile407Thr)	rs398123581	0.00003
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys)	rs769582667	0.00003
NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=)	rs780391343	0.00003
NM_001165963.4(SCN1A):c.821G>A (p.Arg274Lys)	rs1285055471	0.00001
NM_001165963.4(SCN1A):c.1082G>A (p.Gly361Asp)	rs1553547528
NM_001165963.4(SCN1A):c.1329A>G (p.Glu443=)	rs1553546728
NM_001165963.4(SCN1A):c.1429G>C (p.Gly477Arg)	rs1553545777
NM_001165963.4(SCN1A):c.2111T>C (p.Leu704Pro)	rs1131691747
NM_001165963.4(SCN1A):c.2117A>T (p.Asp706Val)	rs1574209133
NM_001165963.4(SCN1A):c.2675A>G (p.Asn892Ser)	rs1553541455
NM_001165963.4(SCN1A):c.2824C>T (p.Leu942=)
NM_001165963.4(SCN1A):c.2946+4T>C	rs1390205269
NM_001165963.4(SCN1A):c.746A>T (p.Asp249Val)	rs762927460

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