ClinVar Miner

List of variants in gene SCN1A reported as uncertain significance by Mendelics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile) rs745378416 0.00001
NM_001165963.4(SCN1A):c.1898C>T (p.Ala633Val) rs1574215846
NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala) rs1574214843
NM_001165963.4(SCN1A):c.2177-2A>T rs1436792531
NM_001165963.4(SCN1A):c.2392A>G (p.Asn798Asp) rs2105827436
NM_001165963.4(SCN1A):c.404T>C (p.Met135Thr) rs1574290850
NM_001165963.4(SCN1A):c.602+3_602+6del rs1698937795
NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala) rs551068385

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