ClinVar Miner

List of variants studied for hematologic disorder by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000057.4(BLM):c.2855G>C (p.Gly952Ala)
NM_001355436.2(SPTB):c.754G>A (p.Asp252Asn)
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633

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