ClinVar Miner

List of variants in gene SCN3A reported as benign by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_006922.4(SCN3A):c.2031A>T (p.Thr677=) rs1946892 0.51537
NM_006922.4(SCN3A):c.602+9C>T rs7579000 0.22520
NM_006922.4(SCN3A):c.5121C>A (p.Thr1707=) rs11885001 0.02730
NM_006922.4(SCN3A):c.4807+7A>G rs113867009 0.01340
NM_006922.4(SCN3A):c.552G>A (p.Thr184=) rs116682517 0.00839
NM_006922.4(SCN3A):c.5670T>C (p.Pro1890=) rs73969174 0.00763
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288 0.00518
NM_006922.4(SCN3A):c.4476T>C (p.Tyr1492=) rs16850096 0.00337
NM_006922.4(SCN3A):c.171T>C (p.Ala57=) rs111389453 0.00278
NM_006922.4(SCN3A):c.2118G>A (p.Val706=) rs143450450 0.00160
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=) rs72870766 0.00072
NM_006922.4(SCN3A):c.127_129del (p.Asn43del) rs72471101

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