ClinVar Miner

List of variants in gene SCN9A reported as uncertain significance for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_002977.3(SCN9A):c.-126G>C rs200099565
NM_002977.3(SCN9A):c.-324C>T rs201905758
NM_002977.3(SCN9A):c.-339G>C rs886055057
NM_002977.3(SCN9A):c.184A>G (p.Ile62Val) rs121908920
NM_002977.3(SCN9A):c.213G>A (p.Val71=) rs200240989
NM_002977.3(SCN9A):c.274A>T (p.Asn92Tyr) rs747265095
NM_002977.3(SCN9A):c.294C>A (p.Phe98Leu) rs199824489
NM_002977.3(SCN9A):c.553C>T (p.Arg185Cys) rs202083986
NM_002977.3(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_002977.3(SCN9A):c.685C>A (p.Pro229Thr) rs755653914

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