ClinVar Miner

List of variants reported as uncertain significance for Severe myoclonic epilepsy in infancy by Lifecell International Pvt. Ltd

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser) rs561912072 0.00002
NM_001165963.4(SCN1A):c.5783G>A (p.Arg1928His) rs1477444505 0.00001
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu) rs2105852411
NM_001165963.4(SCN1A):c.4396T>C (p.Phe1466Leu) rs2105476313
NM_001165963.4(SCN1A):c.4427A>C (p.Asn1476Thr) rs2105476040
NM_001165963.4(SCN1A):c.4570C>T (p.Pro1524Ser) rs143088184
NM_001165963.4(SCN1A):c.5158A>G (p.Ile1720Val)

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