ClinVar Miner

List of variants in gene SPTAN1 studied for Early infantile epileptic encephalopathy 5

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Total variants: 40
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HGVS dbSNP
NM_001130438.3(SPTAN1):c.1371G>T (p.Glu457Asp)
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=) rs587784431
NM_001130438.3(SPTAN1):c.1603C>A (p.Gln535Lys) rs79650677
NM_001130438.3(SPTAN1):c.1677C>G (p.His559Gln) rs587784432
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln) rs370304886
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=) rs968327265
NM_001130438.3(SPTAN1):c.2064G>A (p.Glu688=) rs587784433
NM_001130438.3(SPTAN1):c.2287G>A (p.Val763Met) rs372062686
NM_001130438.3(SPTAN1):c.2438-13T>G rs587784434
NM_001130438.3(SPTAN1):c.2674G>T (p.Ala892Ser) rs587784435
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141
NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg) rs1564197227
NM_001130438.3(SPTAN1):c.3193C>T (p.Arg1065Cys) rs587784436
NM_001130438.3(SPTAN1):c.3415-9G>T rs199802986
NM_001130438.3(SPTAN1):c.3899T>C (p.Ile1300Thr) rs1048236
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250
NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln)
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.3(SPTAN1):c.433C>G (p.Leu145Val) rs754419719
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729
NM_001130438.3(SPTAN1):c.4813C>T (p.His1605Tyr) rs1564286708
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro)
NM_001130438.3(SPTAN1):c.5023T>A (p.Phe1675Ile) rs1129924
NM_001130438.3(SPTAN1):c.5149-10C>T rs587784437
NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter) rs146418243
NM_001130438.3(SPTAN1):c.5478+12G>A rs41275900
NM_001130438.3(SPTAN1):c.5981A>G (p.Glu1994Gly) rs11543346
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup)
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del) rs398122865
NM_001130438.3(SPTAN1):c.6616_6618GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6763-7C>T rs587784439
NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[3] (p.2300_2302DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu) rs1554769022
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln) rs772995493
NM_001130438.3(SPTAN1):c.7309-15T>C rs370705867
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His)
SPTAN1, 6-BP DUP, NT6923

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