ClinVar Miner

List of variants reported as pathogenic for Diamond-Blackfan anemia 10 by Invitae

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NC_000012.11:g.(?_56396006)_(56437938_?)del
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.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.2T>G (p.Met1Arg) rs1895894261
NM_001029.5(RPS26):c.73_76del (p.Asn25fs) rs2136753850
NM_001029.5(RPS26):c.78_79del (p.Ala27fs)
NM_001029.5(RPS26):c.9_12del (p.Lys4fs) rs2136753785

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