ClinVar Miner

List of variants reported as likely pathogenic for Factor V and factor VIII, combined deficiency of, type 1 by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_139279.6(MCFD2):c.149+5G>A	rs387906286	0.00001
NM_005570.4(LMAN1):c.904A>T (p.Lys302Ter)	rs183873209
NM_139279.6(MCFD2):c.379_380dup (p.Asp127fs)	rs1484184249

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