List of variants in gene MCFD2 reported as pathogenic for hematologic disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_139279.6(MCFD2):c.249del (p.Asp83fs)	rs1294221028	0.00022
NM_139279.6(MCFD2):c.149+5G>A	rs387906286	0.00001
NM_139279.6(MCFD2):c.407T>C (p.Ile136Thr)	rs137852914	0.00001
NM_139279.6(MCFD2):c.103del (p.Gln35fs)	rs1253799389
NM_139279.6(MCFD2):c.241G>T (p.Asp81Tyr)	rs78289603
NM_139279.6(MCFD2):c.265_272del (p.Asp89fs)	rs1558461545
NM_139279.6(MCFD2):c.309+1G>A	rs387906287
NM_139279.6(MCFD2):c.387C>G (p.Asp129Glu)	rs137852913

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