ClinVar Miner

List of variants in gene SCN9A studied for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_002977.3(SCN9A):c.-126G>C rs200099565
NM_002977.3(SCN9A):c.-277C>T rs201445594
NM_002977.3(SCN9A):c.-283G>C rs191091185
NM_002977.3(SCN9A):c.-290T>C rs148362057
NM_002977.3(SCN9A):c.-294T>C rs141521157
NM_002977.3(SCN9A):c.-307G>T rs1881440
NM_002977.3(SCN9A):c.-324C>T rs201905758
NM_002977.3(SCN9A):c.-339G>C rs886055057
NM_002977.3(SCN9A):c.129T>C (p.Asp43=) rs200826539
NM_002977.3(SCN9A):c.174G>A (p.Gln58=) rs6432901
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.29A>G (p.Gln10Arg) rs267607030
NM_002977.3(SCN9A):c.444A>G (p.Pro148=) rs9646771
NM_002977.3(SCN9A):c.553C>T (p.Arg185Cys) rs202083986
NM_002977.3(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_002977.3(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_002977.3(SCN9A):c.685C>A (p.Pro229Thr) rs755653914
NM_002977.3(SCN9A):c.688+13T>C rs74449889

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