ClinVar Miner

List of variants reported as pathogenic for anemia (disease) by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter) rs539460201
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000996.4(RPL35A):c.258del (p.Lys87fs) rs1581106084
NM_003647.3(DGKE):c.889-1G>A rs312262696
NM_005142.3(CBLIF):c.79+1G>A rs147785187
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167

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