List of variants in gene SCN2A reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.1456_1457del (p.Ser486fs)	rs1697695664
NM_001040142.2(SCN2A):c.2017-2A>G	rs2105284299
NM_001040142.2(SCN2A):c.2562+2T>C	rs1574636792
NM_001040142.2(SCN2A):c.4272G>A (p.Trp1424Ter)
NM_001040142.2(SCN2A):c.4642A>G (p.Met1548Val)
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met)	rs796053156
NM_001040142.2(SCN2A):c.4948C>T (p.Leu1650Phe)	rs1702008323
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro)	rs1702008435
NM_001040142.2(SCN2A):c.605+1G>A
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)	rs387906686

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