ClinVar Miner

List of variants in gene LMAN1 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)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005570.4(LMAN1):c.15del (p.Arg5fs)
NM_005570.4(LMAN1):c.822G>A (p.Pro274=)
NM_005570.4(LMAN1):c.904A>T (p.Lys302Ter)	rs183873209

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