ClinVar Miner

List of variants in gene SCN2A reported as likely pathogenic by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.2715G>T (p.Lys905Asn)
NM_001040142.2(SCN2A):c.4192T>A (p.Trp1398Arg)
NM_001040142.2(SCN2A):c.4466T>G (p.Phe1489Cys) rs1701579531
NM_001040142.2(SCN2A):c.4596del (p.Phe1533fs)
NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser) rs1064796691
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.2(SCN2A):c.710T>C (p.Ile237Thr)

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