ClinVar Miner

List of variants reported as likely benign for Seizures, benign familial infantile, 3

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00366
NC_000002.12:g.165392314G>A rs189308010 0.00146
NM_001040142.2(SCN2A):c.*2480A>G rs184839439 0.00123
NM_001040142.2(SCN2A):c.*874A>G rs572817494 0.00103
NM_001040142.2(SCN2A):c.*792A>G rs539290679 0.00074
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414 0.00050
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=) rs375858093 0.00024
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552 0.00020
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984 0.00016
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498 0.00010
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780 0.00008
NM_001040142.2(SCN2A):c.3735T>C (p.Ala1245=) rs527970192 0.00004
NM_001040142.2(SCN2A):c.2005C>T (p.Leu669Phe) rs766470088 0.00003
NM_001040142.2(SCN2A):c.122G>A (p.Arg41His) rs754993031 0.00001
NM_001040142.2(SCN2A):c.1542T>C (p.Ser514=) rs780072216 0.00001
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732 0.00001
NM_001040142.2(SCN2A):c.2051G>A (p.Arg684Gln) rs146949852 0.00001
NM_001040142.2(SCN2A):c.5544T>C (p.Ser1848=) rs761713186 0.00001
NM_000702.4(ATP1A2):c.2284+44G>A rs1651914525
NM_000702.4(ATP1A2):c.2284+62T>A rs1651915554
NM_001040142.2(SCN2A):c.2157A>G (p.Glu719=) rs779574574
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.5183C>T (p.Pro1728Leu) rs2105402674
NM_001040142.2(SCN2A):c.681A>G (p.Thr227=) rs2228987

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