List of variants in gene SCN2A reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=)	rs139815570	0.00662
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=)	rs149859004	0.00252
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser)	rs147084515	0.00079
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=)	rs143765389	0.00076
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr)	rs144814658	0.00063
NM_001040142.2(SCN2A):c.2388+9C>A	rs191955969	0.00054
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=)	rs375858093	0.00025
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=)	rs200603552	0.00023
NM_001040142.2(SCN2A):c.2389G>A (p.Val797Ile)	rs142128956	0.00016
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala)	rs138497939	0.00015
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu)	rs148275498	0.00010
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=)	rs149534277	0.00010
NM_001040142.2(SCN2A):c.1841C>T (p.Pro614Leu)	rs143734912	0.00004
NM_001040142.2(SCN2A):c.2563-4C>A	rs561375550	0.00003
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=)	rs529842407	0.00003
NM_001040142.2(SCN2A):c.1889G>A (p.Arg630His)	rs150040573	0.00002
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala)	rs765909421	0.00002
NM_001040142.2(SCN2A):c.4552-9T>C	rs760228082	0.00002
NM_001040142.2(SCN2A):c.3870T>A (p.Thr1290=)	rs1225687118	0.00001
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=)	rs373913233	0.00001
NM_001040142.2(SCN2A):c.5787A>G (p.Ser1929=)	rs1553463866	0.00001
NM_001040142.2(SCN2A):c.5960A>G (p.Glu1987Gly)	rs757068860	0.00001
NM_001040142.2(SCN2A):c.1280C>A (p.Ala427Asp)	rs587780448
NM_001040142.2(SCN2A):c.1966C>T (p.Leu656=)	rs748739874
NM_001040142.2(SCN2A):c.3897T>A (p.Leu1299=)	rs1553593036
NM_001040142.2(SCN2A):c.4254+5G>A	rs587780451
NM_001040142.2(SCN2A):c.4386C>G (p.Phe1462Leu)	rs1701553066
NM_001040142.2(SCN2A):c.975C>T (p.His325=)	rs1553568322

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