ClinVar Miner

List of variants in gene MCFD2 reported as likely pathogenic for Factor V and factor VIII, combined deficiency of, type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_139279.6(MCFD2):c.149+5G>A	rs387906286	0.00001
NM_139279.6(MCFD2):c.379_380dup (p.Asp127fs)	rs1484184249

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