ClinVar Miner

List of variants in gene SCN4A reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu) rs121908552 0.00001
NM_000334.4(SCN4A):c.1996_2001dup (p.Ser666_Val667dup) rs1555603364
NM_000334.4(SCN4A):c.2011T>C (p.Phe671Leu) rs1057524290
NM_000334.4(SCN4A):c.749T>C (p.Leu250Pro) rs1057521065

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