List of variants in gene MCFD2 studied for Factor V and factor VIII, combined deficiency of, type 1

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_139279.6(MCFD2):c.*1289T>C	rs527427772	0.00002
NM_139279.6(MCFD2):c.149+5G>A	rs387906286	0.00001
NM_139279.6(MCFD2):c.2780_2781del	rs886056109
NM_139279.6(MCFD2):c.3072_3073insGG	rs559484016
NM_139279.6(MCFD2):c.379_380dup (p.Asp127fs)	rs1484184249

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