ClinVar Miner

List of variants studied for hematologic disorder by Watson Genetic Lab

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1463G>A (p.Arg488Gln) rs369183199 0.00002
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr) rs137853584 0.00001
NM_000298.6(PKLR):c.695-1G>A

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