ClinVar Miner

List of variants reported as likely pathogenic for Generalized epilepsy with febrile seizures plus, type 9

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Total variants: 13
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HGVS dbSNP
NM_052874.5(STX1B):c.106-1G>C
NM_052874.5(STX1B):c.205+2_205+3del
NM_052874.5(STX1B):c.281-2A>C
NM_052874.5(STX1B):c.281-41_294del
NM_052874.5(STX1B):c.293G>A (p.Ser98Asn) rs781210585
NM_052874.5(STX1B):c.354+1G>A rs1596717264
NM_052874.5(STX1B):c.355-2A>G
NM_052874.5(STX1B):c.463+1G>A
NM_052874.5(STX1B):c.537+2T>C
NM_052874.5(STX1B):c.676-2A>G
NM_052874.5(STX1B):c.686_688del (p.Ile229_Asp230delinsAsn) rs1596714579
NM_052874.5(STX1B):c.823G>A (p.Gly275Arg) rs1596714308
NM_052874.5(STX1B):c.852dup (p.Thr285fs)

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