ClinVar Miner

List of variants in gene SPTB reported as benign for anemia

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001355436.2(SPTB):c.4002+26T>C rs229634 0.53044
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591 0.44391
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587 0.42630
NM_001355436.2(SPTB):c.300+7T>C rs229581 0.41899
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592 0.41773
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923 0.40570
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806 0.38794
NM_001355436.2(SPTB):c.876+5A>G rs230703 0.36832
NM_001355436.2(SPTB):c.648-49G>A rs230704 0.36676
NM_001355436.2(SPTB):c.4474-42C>T rs1741486 0.34516
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487 0.34432
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488 0.34424
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528 0.34399
NM_001355436.2(SPTB):c.300+23C>T rs1353857 0.25252
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586 0.25102
NM_001355436.2(SPTB):c.4563+12G>C rs1741489

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