List of variants in gene SCN2A reported as likely pathogenic by Mendelics

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_001040142.2(SCN2A):c.121C>T (p.Arg41Cys)	rs747086776
NM_001040142.2(SCN2A):c.1384-2A>G	rs1574571769
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter)	rs1553579225
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu)	rs1574641605
NM_001040142.2(SCN2A):c.3664A>C (p.Ser1222Arg)	rs1574697769
NM_001040142.2(SCN2A):c.4243C>A (p.Leu1415Ile)	rs1574716524
NM_001040142.2(SCN2A):c.4635G>C (p.Met1545Ile)	rs1574746733
NM_001040142.2(SCN2A):c.4635G>T (p.Met1545Ile)	rs1574746733
NM_001040142.2(SCN2A):c.4688T>G (p.Leu1563Arg)	rs1574746935
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile)	rs1574752700
NM_001040142.2(SCN2A):c.5918C>G (p.Pro1973Arg)	rs1574754680
NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala)	rs1574556643

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