ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as likely pathogenic for Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7

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Total variants: 8
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HGVS dbSNP
NM_002977.3(SCN9A):c.1198G>A (p.Val400Met) rs1553491169
NM_002977.3(SCN9A):c.1314+1G>T rs1295192882
NM_002977.3(SCN9A):c.2986C>T (p.Arg996Cys) rs121908910
NM_002977.3(SCN9A):c.4366-1C>T
NM_002977.3(SCN9A):c.4470+1G>A
NM_002977.3(SCN9A):c.4470+1G>T rs746241591
NM_002977.3(SCN9A):c.5843A>C (p.Asp1948Ala) rs1060502047
NM_002977.3(SCN9A):c.902-2A>C rs773824421

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