ClinVar Miner

List of variants in gene combination LOC114803470, SCN8A reported as uncertain significance by Ambry Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.82C>T (p.Arg28Cys) rs768570935 0.00002
NM_001330260.2(SCN8A):c.8C>T (p.Ala3Val) rs758891499 0.00002
NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser) rs769269501 0.00001
NM_001330260.2(SCN8A):c.273G>C (p.Gln91His)
NM_001330260.2(SCN8A):c.35A>G (p.Asp12Gly) rs1565878368
NM_001330260.2(SCN8A):c.60G>C (p.Glu20Asp) rs1940951373
NM_001330260.2(SCN8A):c.67G>T (p.Ala23Ser)

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