ClinVar Miner

List of variants reported as likely benign for Multiple mitochondrial dysfunctions syndrome 1 by Invitae

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001002755.4(NFU1):c.167-13T>G rs181762580 0.00058
NM_001002755.4(NFU1):c.303-19A>G rs141033711 0.00031
NM_001002755.4(NFU1):c.62+10G>A rs773351968 0.00016
NM_001002755.4(NFU1):c.545+11C>T rs775731328 0.00015
NM_001002755.4(NFU1):c.545+9T>C rs767405381 0.00015
NM_001002755.4(NFU1):c.546-16T>C rs750424685 0.00004
NM_001002755.4(NFU1):c.702G>A (p.Glu234=) rs561482249 0.00003
NM_001002755.4(NFU1):c.528G>A (p.Leu176=) rs368931176 0.00002
NM_001002755.4(NFU1):c.300T>C (p.Ala100=) rs201828730 0.00001
NM_001002755.4(NFU1):c.370-4A>G rs1673014101 0.00001
NM_001002755.4(NFU1):c.545+7G>T rs750179976 0.00001
NM_001002755.4(NFU1):c.699G>A (p.Pro233=) rs200732109 0.00001
NM_001002755.4(NFU1):c.19C>A (p.Arg7=)
NM_001002755.4(NFU1):c.207A>G (p.Pro69=)
NM_001002755.4(NFU1):c.240T>A (p.Val80=)
NM_001002755.4(NFU1):c.303-19A>T
NM_001002755.4(NFU1):c.303-4G>A
NM_001002755.4(NFU1):c.313A>C (p.Arg105=)
NM_001002755.4(NFU1):c.324A>C (p.Gly108=)
NM_001002755.4(NFU1):c.370-4A>T rs1673014101
NM_001002755.4(NFU1):c.370-7T>C
NM_001002755.4(NFU1):c.370-8G>A
NM_001002755.4(NFU1):c.39T>G (p.Ala13=)
NM_001002755.4(NFU1):c.484+7T>A
NM_001002755.4(NFU1):c.485-20T>A
NM_001002755.4(NFU1):c.485-8_485-5del rs769116545
NM_001002755.4(NFU1):c.526T>C (p.Leu176=)
NM_001002755.4(NFU1):c.546-16T>G rs750424685
NM_001002755.4(NFU1):c.62+12G>A
NM_001002755.4(NFU1):c.62+14C>G rs370979719
NM_001002755.4(NFU1):c.62+14C>T rs370979719
NM_001002755.4(NFU1):c.63-4G>A
NM_001002755.4(NFU1):c.69T>C (p.Cys23=) rs2104814012
NM_001002755.4(NFU1):c.708A>G (p.Glu236=)
NM_001002755.4(NFU1):c.721-8G>C rs1672329270

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