ClinVar Miner

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

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Total variants: 26
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HGVS dbSNP
NM_021007.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658
NM_021007.2(SCN2A):c.1269G>A (p.Val423=) rs139815570
NM_021007.2(SCN2A):c.1280C>A (p.Ala427Asp) rs587780448
NM_021007.2(SCN2A):c.1841C>T (p.Pro614Leu) rs143734912
NM_021007.2(SCN2A):c.1889G>A (p.Arg630His) rs150040573
NM_021007.2(SCN2A):c.1966C>T (p.Leu656=) rs748739874
NM_021007.2(SCN2A):c.2388+9C>A rs191955969
NM_021007.2(SCN2A):c.2389G>A (p.Val797Ile) rs142128956
NM_021007.2(SCN2A):c.24G>A (p.Pro8=) rs149534277
NM_021007.2(SCN2A):c.2563-4C>A rs561375550
NM_021007.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407
NM_021007.2(SCN2A):c.2923C>T (p.Leu975=) rs375858093
NM_021007.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004
NM_021007.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286
NM_021007.2(SCN2A):c.3598A>G (p.Thr1200Ala) rs765909421
NM_021007.2(SCN2A):c.3897T>A (p.Leu1299=) rs1553593036
NM_021007.2(SCN2A):c.4254+5G>A rs587780451
NM_021007.2(SCN2A):c.4552-9T>C rs760228082
NM_021007.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233
NM_021007.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552
NM_021007.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515
NM_021007.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939
NM_021007.2(SCN2A):c.5787A>G (p.Ser1929=) rs1553463866
NM_021007.2(SCN2A):c.897A>G (p.Ser299=) rs143765389
NM_021007.2(SCN2A):c.960T>C (p.Ile320=) rs185590667
NM_021007.2(SCN2A):c.975C>T (p.His325=) rs1553568322

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