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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=)	rs147132904	0.00175
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)	rs143108250	0.00073
NM_001130438.3(SPTAN1):c.5478+12G>A	rs41275900	0.00067
NM_001130438.3(SPTAN1):c.7309-15T>C	rs370705867	0.00067
NM_001130438.3(SPTAN1):c.7161-9C>T	rs187613754	0.00061
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)	rs34654141	0.00028
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=)	rs150870424	0.00028
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr)	rs377253398	0.00008
NM_001130438.3(SPTAN1):c.237+4C>T	rs371350283	0.00007
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp)	rs569997507	0.00004
NM_001130438.3(SPTAN1):c.3156-10C>T	rs745910160	0.00003
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val)	rs771906889	0.00002
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=)	rs587784431	0.00001
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln)	rs370304886	0.00001
NM_001130438.3(SPTAN1):c.3193C>T (p.Arg1065Cys)	rs587784436	0.00001
NM_001130438.3(SPTAN1):c.3415-9G>T	rs199802986	0.00001
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup	rs797046004	0.00001
NM_001130438.3(SPTAN1):c.5149-10C>T	rs587784437	0.00001
NM_001130438.3(SPTAN1):c.6763-7C>T	rs587784439	0.00001
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.2064G>A (p.Glu688=)	rs587784433
NM_001130438.3(SPTAN1):c.2438-13T>G	rs587784434
NM_001130438.3(SPTAN1):c.2674G>T (p.Ala892Ser)	rs587784435
NM_001130438.3(SPTAN1):c.363+1G>A	rs1554737064
NM_001130438.3(SPTAN1):c.3899T>C (p.Ile1300Thr)	rs1048236
NM_001130438.3(SPTAN1):c.5023T>A (p.Phe1675Ile)	rs1129924
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.862G>C (p.Ala288Pro)	rs796053298

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