ClinVar Miner

List of variants reported as pathogenic for pure red-cell aplasia by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1
GRCh38/hg38 3q29(chr3:197681032-198111976)x1
NM_000975.5(RPL11):c.60_61del (p.Cys21fs) rs1570566590
NM_001022.4(RPS19):c.316del (p.Ala106fs) rs2513683320
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.3+1G>T rs148622862

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