ClinVar Miner

List of variants studied for Multiple mitochondrial dysfunctions syndrome 1 by Invitae

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001002755.4(NFU1):c.74T>A (p.Met25Lys) rs4453725 0.37294
NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys) rs74637005 0.02312
NM_001002755.4(NFU1):c.62+9C>T rs114846829 0.01785
NM_001002755.4(NFU1):c.151G>T (p.Ala51Ser) rs76646410 0.01339
NM_001002755.4(NFU1):c.411T>C (p.Ile137=) rs12474866 0.00978
NM_001002755.4(NFU1):c.166+8T>A rs199927640 0.00078
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.17G>A (p.Arg6Lys) rs746094022 0.00017
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.622G>T (p.Gly208Cys) rs374514431 0.00012
NM_001002755.4(NFU1):c.299C>G (p.Ala100Gly) rs139171264 0.00009
NM_001002755.4(NFU1):c.303-2A>T rs371546359 0.00009
NM_001002755.4(NFU1):c.698C>T (p.Pro233Leu) rs777602937 0.00009
NM_001002755.4(NFU1):c.20G>T (p.Arg7Leu) rs765309844 0.00005
NM_001002755.4(NFU1):c.545+4C>T rs371601286 0.00005
NM_001002755.4(NFU1):c.546-16T>C rs750424685 0.00004
NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe) rs201634470 0.00004
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp) rs377381866 0.00004
NM_001002755.4(NFU1):c.371A>G (p.Glu124Gly) rs1235176737 0.00003
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.636C>G (p.Ser212Arg) rs1272262379 0.00002
NM_001002755.4(NFU1):c.720+4T>A rs1006415808 0.00002
NM_001002755.4(NFU1):c.154T>G (p.Phe52Val) rs770513953 0.00001
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.373A>G (p.Asn125Asp) rs769275443 0.00001
NM_001002755.4(NFU1):c.420A>T (p.Thr140=) rs768949114 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
NC_000002.11:g.(?_69627476)_(69627690_?)dup
NM_001002755.4(NFU1):c.107C>T (p.Pro36Leu)
NM_001002755.4(NFU1):c.145C>A (p.Pro49Thr) rs113707482
NM_001002755.4(NFU1):c.166+3A>G
NM_001002755.4(NFU1):c.199C>G (p.Pro67Ala)
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.283T>C (p.Phe95Leu)
NM_001002755.4(NFU1):c.287G>A (p.Arg96His) rs774308958
NM_001002755.4(NFU1):c.290C>G (p.Ser97Cys)
NM_001002755.4(NFU1):c.302+15dup
NM_001002755.4(NFU1):c.302+3A>G
NM_001002755.4(NFU1):c.303-13dup rs372898848
NM_001002755.4(NFU1):c.303-18T>G
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.359C>A (p.Thr120Asn)
NM_001002755.4(NFU1):c.369+4A>C rs775249424
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.430T>G (p.Phe144Val)
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.497A>G (p.Asp166Gly) rs757971255
NM_001002755.4(NFU1):c.498TGA[1] (p.Asp167del)
NM_001002755.4(NFU1):c.499G>A (p.Asp167Asn)
NM_001002755.4(NFU1):c.4G>A (p.Ala2Thr)
NM_001002755.4(NFU1):c.526T>C (p.Leu176=)
NM_001002755.4(NFU1):c.546-16T>G rs750424685
NM_001002755.4(NFU1):c.546G>A (p.Arg182=)
NM_001002755.4(NFU1):c.581A>G (p.Tyr194Cys)
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.68G>A (p.Cys23Tyr)
NM_001002755.4(NFU1):c.697C>A (p.Pro233Thr)
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
NM_001002755.4(NFU1):c.733G>A (p.Glu245Lys)
NM_001002755.4(NFU1):c.86C>T (p.Pro29Leu)
NM_001002755.4(NFU1):c.8C>G (p.Ala3Gly) rs975310478

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