List of variants in gene SCN2A reported as likely pathogenic by Ambry Genetics

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.2695G>A (p.Gly899Ser)	rs796053120	0.00001
NM_001040142.2(SCN2A):c.2636G>C (p.Gly879Ala)	rs1559376694
NM_001040142.2(SCN2A):c.2816T>C (p.Leu939Pro)
NM_001040142.2(SCN2A):c.2936T>G (p.Leu979Trp)	rs1553583544
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile)	rs796053124
NM_001040142.2(SCN2A):c.408G>A (p.Met136Ile)	rs1697221269
NM_001040142.2(SCN2A):c.4876C>T (p.Arg1626Ter)	rs1060503102
NM_001040142.2(SCN2A):c.5265_5268del (p.Phe1755fs)	rs1466129143
NM_001040142.2(SCN2A):c.5274T>A (p.Ser1758Arg)	rs1553463586
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)	rs796053162
NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter)	rs796053166
NM_001040142.2(SCN2A):c.5737C>T (p.Gln1913Ter)	rs1553463850
NM_001040142.2(SCN2A):c.584A>G (p.Asp195Gly)	rs1697272149
NM_001040142.2(SCN2A):c.629T>A (p.Leu210Gln)	rs1559352517
NM_001040142.2(SCN2A):c.722T>G (p.Leu241Arg)

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