ClinVar Miner

List of variants reported for Diamond-Blackfan anemia 10 by Fulgent Genetics, Fulgent Genetics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001029.5(RPS26):c.-3A>G rs181174349 0.00056
NM_001029.5(RPS26):c.312G>A (p.Ala104=) rs145976784 0.00009
NM_001029.5(RPS26):c.63T>A (p.Ile21=) rs148167449 0.00008
NM_001029.5(RPS26):c.181+10T>G rs201191387 0.00003
NM_001029.5(RPS26):c.207G>C (p.Val69=) rs776240183 0.00002
NM_001029.5(RPS26):c.266G>A (p.Arg89His) rs764673368 0.00001
NM_001029.5(RPS26):c.291C>T (p.Pro97=) rs766621663 0.00001
NM_001029.5(RPS26):c.3+14C>T rs763770729 0.00001
NM_001029.5(RPS26):c.3+20G>C rs759864837 0.00001
NM_001029.5(RPS26):c.315T>A (p.Gly105=) rs554297156 0.00001
NM_001029.5(RPS26):c.-22C>G rs1131017
NM_001029.5(RPS26):c.181+19C>G rs201040758
NM_001029.5(RPS26):c.181+6_181+7del rs746906342
NM_001029.5(RPS26):c.3+7C>G rs115750993
NM_001029.5(RPS26):c.3+9T>A rs545595719

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