List of variants in gene RPS26 reported as pathogenic for Diamond-Blackfan 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: 18

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HGVS	dbSNP	gnomAD frequency
NM_001029.5(RPS26):c.181+1del	rs1895903499
NM_001029.5(RPS26):c.196A>T (p.Lys66Ter)	rs1895918140
NM_001029.5(RPS26):c.1A>G (p.Met1Val)	rs143951267
NM_001029.5(RPS26):c.1A>T (p.Met1Leu)	rs143951267
NM_001029.5(RPS26):c.224_225del (p.Val75fs)	rs1555208596
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)	rs148942765
NM_001029.5(RPS26):c.2T>C (p.Met1Thr)
NM_001029.5(RPS26):c.2T>G (p.Met1Arg)	rs1895894261
NM_001029.5(RPS26):c.3+1G>A	rs148622862
NM_001029.5(RPS26):c.3+1G>T
NM_001029.5(RPS26):c.31dup (p.Ala11fs)	rs786200892
NM_001029.5(RPS26):c.4-2A>T	rs786203998
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter)	rs797045919
NM_001029.5(RPS26):c.73_76del (p.Asn25fs)	rs2136753850
NM_001029.5(RPS26):c.78_79del (p.Ala27fs)
NM_001029.5(RPS26):c.88del (p.Val30fs)
NM_001029.5(RPS26):c.97G>A (p.Asp33Asn)	rs267607023
NM_001029.5(RPS26):c.9_12del (p.Lys4fs)	rs2136753785

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