ClinVar Miner

List of variants studied for coagulation protein disease by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.2044G>T (p.Val682Phe) rs1569559755
NM_000552.5(VWF):c.5520dup (p.Gly1841fs) rs1591858979
NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro) rs1572611822

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