ClinVar Miner

List of variants studied for aplastic anemia by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.166-2A>G rs587777945 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
GRCh37/hg19 16q24.3(chr16:89818649-89883044)
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg) rs786201916
NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs) rs863224827
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000975.5(RPL11):c.94_97del (p.Asp31_Arg32insTer)
NM_001029.5(RPS26):c.181+1del rs1895903499

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