ClinVar Miner

List of variants in gene SCN2A reported as uncertain significance by GenomeConnect - Simons Searchlight

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
NM_001040142.2(SCN2A):c.106A>G (p.Arg36Gly) rs796053167
NM_001040142.2(SCN2A):c.2134A>T (p.Thr712Ser) rs1698389721
NM_001040142.2(SCN2A):c.2852T>G (p.Met951Arg) rs1218362168
NM_001040142.2(SCN2A):c.3149A>T (p.Asp1050Val) rs1700079624
NM_001040142.2(SCN2A):c.3734C>T (p.Ala1245Val) rs768796023
NM_001040142.2(SCN2A):c.4972C>T (p.Pro1658Ser) rs1702009188
NM_001040142.2(SCN2A):c.4996C>T (p.Leu1666Phe) rs1553463466
NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp) rs1553463718
NM_001040142.2(SCN2A):c.716G>T (p.Gly239Val) rs1697360374
NM_001371246.1(SCN2A):c.647T>A (p.Leu216His) rs1697299021

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