ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Institute of Human Genetics, University Hospital Muenster

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.1169T>C (p.Ile390Thr) rs2124106062
NM_000132.4(F8):c.5306G>A (p.Gly1769Glu)
NM_000133.4(F9):c.391+5G>A rs2148358021
NM_000552.5(VWF):c.4892G>A (p.Gly1631Asp) rs2136411659
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly) rs761034212

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