ClinVar Miner

List of variants studied for Complex neurodevelopmental disorder by ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel, Clingen

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814 0.06063
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00366
NM_001330260.2(SCN8A):c.4590G>A (p.Met1530Ile) rs771231471 0.00003
NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val) rs751979396 0.00001
NM_001040142.2(SCN2A):c.1108T>C (p.Phe370Leu) rs796053177
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser) rs1592162430
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln) rs796053229

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