ClinVar Miner

List of variants reported as pathogenic for anemia by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.4-2A>T rs786203998
NM_001031.5(RPS28):c.1A>G (p.Met1Val) rs786203997
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly) rs786203996

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