ClinVar Miner

List of variants in gene RPL26 studied for Diamond-Blackfan anemia

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NC_000017.11:g.(?_8377516)_(8379936_?)dup
NM_000987.4(RPL26):c.120_121delGA (p.Lys41Valfs) rs397518451
NM_000987.4(RPL26):c.96C>T (p.Ser32=) rs755369380
NM_000987.5(RPL26):c.259C>T (p.Arg87Trp) rs878854147

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