ClinVar Miner

List of variants studied for hematologic disorder by Hb Lab, Kinderklinik Ulm, University Hospital Ulm

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.316-238C>T rs558554234 0.00001
NM_000398.7(CYB5R3):c.830dup (p.Pro278fs) rs750819571

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