ClinVar Miner

List of variants reported as pathogenic for aplastic anemia by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522

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