ClinVar Miner

List of variants in gene MFSD8 reported as likely pathogenic for Inborn genetic diseases

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971 0.00003
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_001371596.2(MFSD8):c.554-2A>T rs1560747815
NM_001371596.2(MFSD8):c.63-2A>G rs757857101
NM_001371596.2(MFSD8):c.699-1G>C rs1739594685
NM_001371596.2(MFSD8):c.754+1G>T rs868732642

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