ClinVar Miner

List of variants reported as pathogenic for acquired aplastic anemia by Degerman lab,Umeå University

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_198253.2(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NR_001566.1(TERC):n.107G>T rs1553915617
NR_001566.1(TERC):n.122_125delGCGG rs1553915612
NR_001566.1(TERC):n.407_408delTCinsAA rs1553915580
NR_001566.1(TERC):n.69_74dup rs1553915621

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