List of variants in gene SCN2A reported as likely 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.1031C>T (p.Ala344Val)	rs1697465574
NM_001040142.2(SCN2A):c.1034+1G>A	rs2105251544
NM_001040142.2(SCN2A):c.2217G>A (p.Trp739Ter)	rs868074288
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter)	rs1553578503
NM_001040142.2(SCN2A):c.2621T>C (p.Ile874Thr)	rs1699476042
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile)	rs121917751
NM_001040142.2(SCN2A):c.2765G>A (p.Arg922His)	rs1057518048
NM_001040142.2(SCN2A):c.3464_3468del (p.Glu1155fs)	rs1574691534
NM_001040142.2(SCN2A):c.3850-3T>G	rs1445707939
NM_001040142.2(SCN2A):c.415A>G (p.Ile139Val)	rs2105241347
NM_001040142.2(SCN2A):c.4534C>T (p.Pro1512Ser)	rs1558879940
NM_001040142.2(SCN2A):c.466A>G (p.Lys156Glu)	rs1553567130
NM_001040142.2(SCN2A):c.4778G>T (p.Gly1593Val)	rs2105398592
NM_001040142.2(SCN2A):c.4913G>A (p.Arg1638His)
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)	rs796053162
NM_001040142.2(SCN2A):c.622G>A (p.Val208Met)	rs1064796373
NM_001040142.2(SCN2A):c.779G>T (p.Ser260Ile)	rs2105247310

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