ClinVar Miner

List of variants in gene combination LOC129933675, MCFD2 reported as uncertain significance for Factor V and factor VIII, combined deficiency of, type 1

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001171506.2(MCFD2):c.-184_-183del rs886056120
NM_001171506.2(MCFD2):c.-185_-183del rs886056121
NM_001171506.2(MCFD2):c.-189_-186del rs886056123
NM_001171506.2(MCFD2):c.-189del rs886056124
NM_139279.6(MCFD2):c.-90del rs886056122

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