ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3161T>G (p.Leu1054Arg) rs985473996 0.00002
NM_001165963.4(SCN1A):c.3705+6T>C rs1692854443
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys) rs376669368
NM_001165963.4(SCN1A):c.5972del (p.Lys1991fs) rs1388173033

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