ClinVar Miner

List of variants in gene SPTAN1 reported as pathogenic by Invitae

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NC_000009.11:g.(?_131360669)_(131367766_?)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.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.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.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.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys) rs1554768992
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.889_896del (p.His297fs) rs2131012464

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