List of variants in gene SPTB reported as uncertain significance for anemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val)	rs148337824	0.00150
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser)	rs149186357	0.00141
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln)	rs140141633	0.00132
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)	rs145675502	0.00068
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His)	rs146326769	0.00065
NM_001355436.2(SPTB):c.774G>A (p.Thr258=)	rs12435635	0.00051
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)	rs138437526	0.00034
NM_001355436.2(SPTB):c.871G>A (p.Gly291Ser)	rs143599352	0.00026
NM_001355436.2(SPTB):c.5680G>A (p.Gly1894Arg)	rs116677071	0.00016
NM_001355436.2(SPTB):c.947C>T (p.Thr316Ile)	rs146651264	0.00015
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu)	rs760803657	0.00011
NM_001355436.2(SPTB):c.3764+8C>T	rs200257205	0.00005
NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser)	rs375478086	0.00004
NM_001355436.2(SPTB):c.220C>T (p.Arg74Cys)	rs575005279	0.00001
NM_001355436.2(SPTB):c.1509G>C (p.Lys503Asn)
NM_001355436.2(SPTB):c.2401C>T (p.His801Tyr)
NM_001355436.2(SPTB):c.2711T>C (p.Ile904Thr)
NM_001355436.2(SPTB):c.3005G>A (p.Arg1002His)
NM_001355436.2(SPTB):c.413T>C (p.Ile138Thr)	rs2082930394
NM_001355436.2(SPTB):c.6041T>G (p.Phe2014Cys)	rs2082214097
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg)	rs121918649
NM_001355436.2(SPTB):c.6181T>G (p.Trp2061Gly)	rs1690651311
NM_001355436.2(SPTB):c.6223G>C (p.Glu2075Gln)	rs2139479145
NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del)	rs750154106
NM_001355436.2(SPTB):c.754G>A (p.Asp252Asn)
NM_001355436.2(SPTB):c.836A>C (p.Lys279Thr)	rs770880582

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