ClinVar Miner

List of variants studied for blood coagulation disease by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.679G>T (p.Glu227Ter)
NM_000552.5(VWF):c.6211C>T (p.Gln2071Ter)
NM_001754.5(RUNX1):c.590_597del (p.Val197fs)

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