ClinVar Miner

List of variants 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: 12
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NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met) rs1553491169
NM_001365536.1(SCN9A):c.1314+1G>T rs1295192882
NM_001365536.1(SCN9A):c.258+1G>A rs755067851
NM_001365536.1(SCN9A):c.2720G>A (p.Arg907Gln)
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys) rs121908910
NM_001365536.1(SCN9A):c.4399-1C>T rs1283839545
NM_001365536.1(SCN9A):c.4503+1G>A rs746241591
NM_001365536.1(SCN9A):c.4503+1G>T rs746241591
NM_001365536.1(SCN9A):c.5876A>C (p.Asp1959Ala) rs1060502047
NM_001365536.1(SCN9A):c.902-2A>C rs773824421

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