ClinVar Miner

List of variants in gene SPTB reported as likely pathogenic for anemia

Included ClinVar conditions (292):
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val) rs367841692 0.00004
NM_001355436.2(SPTB):c.1182+2T>C rs2139613101
NM_001355436.2(SPTB):c.1465G>T (p.Glu489Ter)
NM_001355436.2(SPTB):c.146C>T (p.Ala49Val)
NM_001355436.2(SPTB):c.1618dup (p.Ser540fs)
NM_001355436.2(SPTB):c.1759del (p.Ile587fs)
NM_001355436.2(SPTB):c.1795+1G>A rs786204766
NM_001355436.2(SPTB):c.1908del (p.Lys637fs)
NM_001355436.2(SPTB):c.1921A>T (p.Lys641Ter)
NM_001355436.2(SPTB):c.2137C>T (p.Gln713Ter)
NM_001355436.2(SPTB):c.2163_2164dup (p.Ser722fs)
NM_001355436.2(SPTB):c.2617G>T (p.Glu873Ter)
NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter) rs1555369657
NM_001355436.2(SPTB):c.3082C>T (p.Gln1028Ter)
NM_001355436.2(SPTB):c.3106del (p.Gln1036fs)
NM_001355436.2(SPTB):c.3114delinsAAACAT (p.His1038fs)
NM_001355436.2(SPTB):c.3352C>T (p.Gln1118Ter)
NM_001355436.2(SPTB):c.3784_3787del (p.Lys1262fs) rs1594773586
NM_001355436.2(SPTB):c.3829C>T (p.Gln1277Ter)
NM_001355436.2(SPTB):c.3877A>T (p.Lys1293Ter) rs763084936
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) rs150471537
NM_001355436.2(SPTB):c.4178del (p.Lys1393fs)
NM_001355436.2(SPTB):c.4473+1G>A
NM_001355436.2(SPTB):c.474+1G>A
NM_001355436.2(SPTB):c.4800dup (p.Gly1601fs)
NM_001355436.2(SPTB):c.4843-1G>C
NM_001355436.2(SPTB):c.4973+5G>A rs1555367789
NM_001355436.2(SPTB):c.5178+1G>A
NM_001355436.2(SPTB):c.5446A>T (p.Lys1816Ter) rs1480466529
NM_001355436.2(SPTB):c.5455G>T (p.Glu1819Ter) rs200386310
NM_001355436.2(SPTB):c.545G>A (p.Trp182Ter)
NM_001355436.2(SPTB):c.5953C>T (p.Gln1985Ter)
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro) rs121918648
NM_001355436.2(SPTB):c.6119C>T (p.Thr2040Ile) rs1345709572
NM_001355436.2(SPTB):c.6175G>C (p.Ala2059Pro)
NM_001355436.2(SPTB):c.6194_6195dup (p.Ala2066fs) rs1555366592
NM_001355436.2(SPTB):c.647+1G>A
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769

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