ClinVar Miner

List of variants studied for anemia by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_001081.4(CUBN):c.10471A>G (p.Ser3491Gly) rs1183879233 0.00001

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