ClinVar Miner

List of variants reported as likely pathogenic for aplastic anemia by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.4(FANCA):c.826+5_826+9del rs797045570
NM_001022.4(RPS19):c.356+3A>C rs1555841379
NM_005373.2(MPL):c.1303T>A (p.Trp435Arg) rs1553128241

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