ClinVar Miner

List of variants studied for hematologic disorder by Center of Genomic Medicine, University of Medicine and Pharmacy Victor Babes Timisoara

Included ClinVar conditions (812):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001012339.3(DNAJC21):c.148C>T (p.Gln50Ter) rs2112024354
NM_001012339.3(DNAJC21):c.643_644delinsTTT (p.Lys215fs) rs2112039335

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