ClinVar Miner

List of variants in gene SPTAN1 reported as pathogenic for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys) rs780658554 0.00004
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507 0.00004
NC_000009.11:g.(?_131360669)_(131367766_?)del
NC_000009.11:g.(?_131382516)_(131393966_?)del
NC_000009.12:g.(?_128613381)_(128613485_?)del
NM_001130438.3(SPTAN1):c.1339G>T (p.Glu447Ter)
NM_001130438.3(SPTAN1):c.1367G>A (p.Trp456Ter) rs2131088567
NM_001130438.3(SPTAN1):c.1642C>T (p.Arg548Ter)
NM_001130438.3(SPTAN1):c.1773_1774del (p.Lys592fs) rs1852112548
NM_001130438.3(SPTAN1):c.1834C>T (p.Gln612Ter) rs1852152679
NM_001130438.3(SPTAN1):c.2860del (p.Gln954fs) rs2131239154
NM_001130438.3(SPTAN1):c.2961del (p.Thr987_Met988insTer) rs1853049371
NM_001130438.3(SPTAN1):c.2988dup (p.Leu997fs) rs2131267665
NM_001130438.3(SPTAN1):c.3251_3252del (p.Lys1084fs) rs2131360489
NM_001130438.3(SPTAN1):c.3279del (p.Lys1093fs) rs1853919580
NM_001130438.3(SPTAN1):c.3292del (p.Arg1098fs)
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter) rs1851109762
NM_001130438.3(SPTAN1):c.4343A>C (p.Gln1448Pro) rs1856116625
NM_001130438.3(SPTAN1):c.4615C>T (p.Gln1539Ter)
NM_001130438.3(SPTAN1):c.4813C>T (p.His1605Tyr) rs1564286708
NM_001130438.3(SPTAN1):c.4852G>A (p.Gly1618Ser) rs1554759745
NM_001130438.3(SPTAN1):c.4936C>T (p.Gln1646Ter) rs1856640613
NM_001130438.3(SPTAN1):c.5425A>T (p.Lys1809Ter)
NM_001130438.3(SPTAN1):c.5531_5532del (p.Glu1844fs)
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
NM_001130438.3(SPTAN1):c.58dup (p.Gln20fs)
NM_001130438.3(SPTAN1):c.6019_6020del (p.Thr2006_Asp2007insTer)
NM_001130438.3(SPTAN1):c.6100C>T (p.Gln2034Ter) rs2131952314
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp) rs2131953982
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del) rs1858669268
NM_001130438.3(SPTAN1):c.6367del (p.Val2123fs)
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del) rs398122865
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter) rs1859856446
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001130438.3(SPTAN1):c.6854A>G (p.Asn2285Ser) rs1441152520
NM_001130438.3(SPTAN1):c.6896_6904del (p.Trp2299_Gln2301del)
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6905_6946dup (p.Leu2302_Gln2315dup) rs2132089818
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys) rs1554768992
NM_001130438.3(SPTAN1):c.6924_6929dup (p.Met2309_Gln2310insHisMet)
NM_001130438.3(SPTAN1):c.6937dup (p.Leu2313fs)
NM_001130438.3(SPTAN1):c.6956C>A (p.Ala2319Asp) rs2132090668
NM_001130438.3(SPTAN1):c.6975_6995delinsTC (p.Thr2326fs)
NM_001130438.3(SPTAN1):c.698_723del (p.Val233fs) rs1554741638
NM_001130438.3(SPTAN1):c.6993dup (p.Glu2332fs) rs1859912470
NM_001130438.3(SPTAN1):c.7225_7228dup (p.Ser2410Ter)
NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe) rs2132106592
NM_001130438.3(SPTAN1):c.889_896del (p.His297fs) rs2131012464
NM_001130438.3:c.(?_1225)_(1572_?)del

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