ClinVar Miner

List of variants in gene MCFD2 reported as pathogenic for Factor v and factor viii, combined deficiency of, 2

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Total variants: 8
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NM_001171506.2(MCFD2):c.103del (p.Gln35fs) rs1253799389
NM_001171506.2(MCFD2):c.149+5G>A rs387906286
NM_001171506.2(MCFD2):c.241G>T (p.Asp81Tyr) rs78289603
NM_001171506.2(MCFD2):c.249del (p.Asp83fs) rs1294221028
NM_001171506.2(MCFD2):c.265_272del (p.Asp89fs) rs1558461545
NM_001171506.2(MCFD2):c.309+1G>A rs387906287
NM_001171506.2(MCFD2):c.387C>G (p.Asp129Glu) rs137852913
NM_001171506.2(MCFD2):c.407T>C (p.Ile136Thr) rs137852914

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