ClinVar Miner

List of variants reported as likely pathogenic for aplastic anemia by Baylor Genetics

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.220del (p.Ala74fs) rs1588350264
NM_000136.3(FANCC):c.360_361TA[1] (p.Ile121fs) rs1588220728
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_005373.2(MPL):c.413del (p.Ile138fs) rs1343123940
NM_058216.3(RAD51C):c.571+5G>A rs145779113
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376

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