ClinVar Miner

List of variants in gene SCN2A reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 24
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HGVS dbSNP
NM_001040142.1(SCN2A):c.1313A>T (p.Glu438Val) rs1553569017
NM_001040142.1(SCN2A):c.1623G>A (p.Leu541=) rs753341735
NM_001040142.1(SCN2A):c.1755G>C (p.Lys585Asn) rs370685828
NM_001040142.1(SCN2A):c.187C>T (p.Pro63Ser) rs1064797259
NM_001040142.1(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001040142.1(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001040142.1(SCN2A):c.311G>A (p.Ser104Asn) rs139756067
NM_001040142.1(SCN2A):c.387T>A (p.Ser129=) rs1064797260
NM_001040142.1(SCN2A):c.413C>G (p.Thr138Arg) rs764044312
NM_001040142.1(SCN2A):c.4551+8T>A rs1064797263
NM_001040142.1(SCN2A):c.5313_5321delCATCGCGGT (p.Ala1773_Ile1775del) rs1553463597
NM_001040142.1(SCN2A):c.5477_5478insTCC (p.Pro1828_Leu1829insPro) rs1553463673
NM_001040142.1(SCN2A):c.5545G>C (p.Gly1849Arg) rs1553463708
NM_001040142.1(SCN2A):c.5550C>A (p.Asp1850Glu) rs1553463712
NM_001040142.1(SCN2A):c.5580T>G (p.Ala1860=) rs752845880
NM_001040142.1(SCN2A):c.605+7A>G rs1064797261
NM_001040142.1(SCN2A):c.765T>C (p.Thr255=) rs1064797262
NM_001040142.2(SCN2A):c.3389A>C (p.Glu1130Ala)
NM_001040142.2(SCN2A):c.3850-3T>C
NM_021007.2(SCN2A):c.1923T>C (p.Asn641=) rs780183614
NM_021007.2(SCN2A):c.2562+5A>G rs374738441
NM_021007.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924
NM_021007.2(SCN2A):c.3598A>G (p.Thr1200Ala) rs765909421
NM_021007.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552

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