ClinVar Miner

List of variants reported as benign for Epilepsy, familial focal, with variable foci 4 by Genome-Nilou Lab

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Total variants: 8
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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.695-46A>G rs9333576 0.22613
NM_006922.4(SCN3A):c.602+9C>T rs7579000 0.22520
NM_006922.4(SCN3A):c.968-20G>T rs11887309 0.22426
NM_006922.4(SCN3A):c.1441C>T (p.Leu481=) rs16850131 0.21998
NM_006922.4(SCN3A):c.1381-34G>A rs58539679 0.21988
NM_006922.4(SCN3A):c.2547A>C (p.Val849=) rs62174900 0.16330
NM_006922.4(SCN3A):c.127_129del (p.Asn43del) rs72471101

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