ClinVar Miner

List of variants in gene RPS26 reported as uncertain significance for Diamond-Blackfan anemia 10

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001029.5(RPS26):c.312G>A (p.Ala104=) rs145976784 0.00009
NM_001029.5(RPS26):c.181+6T>G rs201848035 0.00004
NM_001029.5(RPS26):c.-80C>T rs886049687 0.00001
NM_001029.5(RPS26):c.266G>A (p.Arg89His) rs764673368 0.00001
NM_001029.5(RPS26):c.3+6T>G rs748437026 0.00001
NM_001029.5(RPS26):c.93C>T (p.Pro31=) rs760255764 0.00001
NC_000012.11:g.(?_56435951)_(56437938_?)dup
NM_001029.5(RPS26):c.-130T>G rs1895889933
NM_001029.5(RPS26):c.-149G>T rs886049686
NM_001029.5(RPS26):c.157A>G (p.Ile53Val) rs1295092646
NM_001029.5(RPS26):c.170G>A (p.Ser57Asn)
NM_001029.5(RPS26):c.181+6_181+7del rs746906342
NM_001029.5(RPS26):c.182-16_182-4del
NM_001029.5(RPS26):c.266G>C (p.Arg89Pro) rs764673368
NM_001029.5(RPS26):c.274C>T (p.Arg92Cys)
NM_001029.5(RPS26):c.3+4A>C
NM_001029.5(RPS26):c.3+5G>C
NM_001029.5(RPS26):c.312+3G>A
NM_001029.5(RPS26):c.317C>G (p.Ala106Gly)
NM_001029.5(RPS26):c.328C>T (p.Pro110Ser)
NM_001029.5(RPS26):c.332C>T (p.Pro111Leu)
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)
NM_001029.5(RPS26):c.4-8_4-7delinsCT
NM_001029.5(RPS26):c.61A>C (p.Ile21Leu) rs1392801928
NM_001029.5(RPS26):c.64C>G (p.Arg22Gly) rs762701251
NM_001029.5(RPS26):c.65G>A (p.Arg22His)
NM_001029.5(RPS26):c.70A>G (p.Thr24Ala)
NM_001029.5(RPS26):c.77G>A (p.Cys26Tyr)
NM_001029.5(RPS26):c.95A>C (p.Lys32Thr)
NM_001029.5(RPS26):c.96G>A (p.Lys32=) rs1472827120
NM_001029.5(RPS26):c.9G>C (p.Lys3Asn)

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