ClinVar Miner

List of variants in gene SPTAN1 reported as pathogenic for not provided

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.1006C>T (p.Arg336Ter)
NM_001130438.3(SPTAN1):c.133C>T (p.Arg45Ter) rs1484319243
NM_001130438.3(SPTAN1):c.1642C>T (p.Arg548Ter)
NM_001130438.3(SPTAN1):c.277C>T (p.Gln93Ter)
NM_001130438.3(SPTAN1):c.315_316insA (p.Gly106fs)
NM_001130438.3(SPTAN1):c.466C>T (p.Arg156Ter)
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
NM_001130438.3(SPTAN1):c.5988G>A (p.Trp1996Ter)
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.6263dup (p.Ser2089fs)
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.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001130438.3(SPTAN1):c.6923G>A (p.Arg2308His)
NM_001130438.3(SPTAN1):c.7210G>A (p.Glu2404Lys)
NM_001130438.3(SPTAN1):c.73C>T (p.Arg25Ter) rs2132957934
NM_001130438.3(SPTAN1):c.78C>G (p.Tyr26Ter)

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