ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 10 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001029.5(RPS26):c.182-16_182-4del
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.3+1G>T

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