ClinVar Miner

List of variants in gene NFU1 reported as uncertain significance for fatal multiple mitochondrial dysfunctions syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001002755.2(NFU1):c.-119G>A rs372505661 0.00341
NM_001002755.2(NFU1):c.-200G>A rs531177766 0.00121
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.*103G>A rs774104725 0.00057
NM_001002755.2(NFU1):c.-134A>G rs768859205 0.00010
NM_001002755.4(NFU1):c.299C>G (p.Ala100Gly) rs139171264 0.00009
NM_001002755.4(NFU1):c.698C>T (p.Pro233Leu) rs777602937 0.00009
NM_001002755.2(NFU1):c.-66C>T rs753424678 0.00008
NM_001002755.2(NFU1):c.-179C>G rs992843651 0.00005
NM_001002755.4(NFU1):c.545+4C>T rs371601286 0.00005
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_001002755.2(NFU1):c.-175G>T rs764708513 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_001002755.2(NFU1):c.-197T>G rs886056269 0.00001
NM_001002755.4(NFU1):c.154T>G (p.Phe52Val) rs770513953 0.00001
NM_001002755.4(NFU1):c.373A>G (p.Asn125Asp) rs769275443 0.00001
NM_001002755.2(NFU1):c.-150_-149GC[1] rs777119948
NM_001002755.2(NFU1):c.-41C>T rs775615702
NM_001002755.2(NFU1):c.-48G>A rs886056268
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.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+3A>G
NM_001002755.4(NFU1):c.303-13dup rs372898848
NM_001002755.4(NFU1):c.332G>T (p.Ser111Ile) rs756434076
NM_001002755.4(NFU1):c.359C>A (p.Thr120Asn)
NM_001002755.4(NFU1):c.369+4A>C rs775249424
NM_001002755.4(NFU1):c.430T>G (p.Phe144Val)
NM_001002755.4(NFU1):c.495A>T (p.Glu165Asp) rs886056266
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.546G>A (p.Arg182=)
NM_001002755.4(NFU1):c.581A>G (p.Tyr194Cys)
NM_001002755.4(NFU1):c.68G>A (p.Cys23Tyr)
NM_001002755.4(NFU1):c.697C>A (p.Pro233Thr)
NM_001002755.4(NFU1):c.733G>A (p.Glu245Lys)
NM_001002755.4(NFU1):c.84T>A (p.Asn28Lys) rs1673654615
NM_001002755.4(NFU1):c.86C>T (p.Pro29Leu)

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