ClinVar Miner

List of variants in gene SPTAN1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 31
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HGVS dbSNP
NM_001130438.2(SPTAN1):c.1389C>T (p.Tyr463=) rs587784431
NM_001130438.2(SPTAN1):c.1603C>A (p.Gln535Lys) rs79650677
NM_001130438.2(SPTAN1):c.1677C>G (p.His559Gln) rs587784432
NM_001130438.2(SPTAN1):c.1697G>A (p.Arg566Gln) rs370304886
NM_001130438.2(SPTAN1):c.2064G>A (p.Glu688=) rs587784433
NM_001130438.2(SPTAN1):c.237+4C>T rs371350283
NM_001130438.2(SPTAN1):c.2438-13T>G rs587784434
NM_001130438.2(SPTAN1):c.2674G>T (p.Ala892Ser) rs587784435
NM_001130438.2(SPTAN1):c.2889G>A (p.Thr963=) rs34654141
NM_001130438.2(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424
NM_001130438.2(SPTAN1):c.3156-10C>T rs745910160
NM_001130438.2(SPTAN1):c.3193C>T (p.Arg1065Cys) rs587784436
NM_001130438.2(SPTAN1):c.3415-9G>T rs199802986
NM_001130438.2(SPTAN1):c.3579+3_3579+4dup rs797046004
NM_001130438.2(SPTAN1):c.363+1G>A rs1554737064
NM_001130438.2(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507
NM_001130438.2(SPTAN1):c.3899T>C (p.Ile1300Thr) rs1048236
NM_001130438.2(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250
NM_001130438.2(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.2(SPTAN1):c.5023T>A (p.Phe1675Ile) rs1129924
NM_001130438.2(SPTAN1):c.511A>G (p.Ile171Val) rs771906889
NM_001130438.2(SPTAN1):c.5149-10C>T rs587784437
NM_001130438.2(SPTAN1):c.5478+12G>A rs41275900
NM_001130438.2(SPTAN1):c.5981A>G (p.Glu1994Gly) rs11543346
NM_001130438.2(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001130438.2(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398
NM_001130438.2(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.2(SPTAN1):c.6763-7C>T rs587784439
NM_001130438.2(SPTAN1):c.7161-9C>T rs187613754
NM_001130438.2(SPTAN1):c.7309-15T>C rs370705867
NM_001130438.2(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298

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