ClinVar Miner

List of variants reported as pathogenic for Generalized epilepsy with febrile seizures plus, type 9 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.(?_30992801)_(31068051_?)del
NC_000016.10:g.(?_31000908)_(31001623_?)del
NC_000016.9:g.(?_30996980)_(31021717_?)del
NM_052874.5(STX1B):c.205_205+1del rs2143677618
NM_052874.5(STX1B):c.214C>T (p.Gln72Ter) rs2143677351
NM_052874.5(STX1B):c.252_257delinsAT (p.Ala85fs) rs2056624422
NM_052874.5(STX1B):c.2T>A (p.Met1Lys)
NM_052874.5(STX1B):c.334del (p.Leu112fs) rs2143670891
NM_052874.5(STX1B):c.338_354+15del
NM_052874.5(STX1B):c.340_354+123del
NM_052874.5(STX1B):c.35_36dup (p.Asp13fs) rs1567379671
NM_052874.5(STX1B):c.366del (p.Ser123fs)
NM_052874.5(STX1B):c.394G>T (p.Glu132Ter) rs1567378099
NM_052874.5(STX1B):c.39del (p.Asp13fs)
NM_052874.5(STX1B):c.404del (p.Ala135fs) rs1596716888
NM_052874.5(STX1B):c.430T>C (p.Cys144Arg) rs2143669286
NM_052874.5(STX1B):c.463+1G>A rs2056596353
NM_052874.5(STX1B):c.463+5G>T rs1596716834
NM_052874.5(STX1B):c.537+2T>C rs1555494222
NM_052874.5(STX1B):c.565C>T (p.Gln189Ter)
NM_052874.5(STX1B):c.733C>T (p.Arg245Ter) rs780843272
NM_052874.5(STX1B):c.786+1G>A
NM_052874.5(STX1B):c.786+1G>T
NM_052874.5(STX1B):c.815del (p.Val272fs)

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