ClinVar Miner

List of variants studied for fatal multiple mitochondrial dysfunctions syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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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_001002755.2(NFU1):c.-166T>C rs73934936 0.01772
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.-6A>G rs116604978 0.00625
NM_001002755.2(NFU1):c.-119G>A rs372505661 0.00341
NM_212552.3(BOLA3):c.258+9A>C rs201380456 0.00133
NM_001002755.2(NFU1):c.-200G>A rs531177766 0.00121
NM_001002755.4(NFU1):c.166+8T>A rs199927640 0.00078
NM_212552.3(BOLA3):c.-35C>T rs761339384 0.00064
NM_001002755.4(NFU1):c.167-13T>G rs181762580 0.00058
NM_001002755.4(NFU1):c.*103G>A rs774104725 0.00057
NM_212552.3(BOLA3):c.319C>T (p.Arg107Cys) rs150626228 0.00046
NM_212552.3(BOLA3):c.137G>A (p.Arg46Gln) rs144366005 0.00023
NM_001002755.4(NFU1):c.62+10G>A rs773351968 0.00016
NM_001002755.2(NFU1):c.-134A>G rs768859205 0.00010
NM_001002755.4(NFU1):c.299C>G (p.Ala100Gly) rs139171264 0.00009
NM_001002755.2(NFU1):c.-66C>T rs753424678 0.00008
NM_212552.3(BOLA3):c.256C>G (p.Gln86Glu) rs149964046 0.00008
NM_212552.3(BOLA3):c.*190G>A rs886056325 0.00006
NM_001002755.2(NFU1):c.-179C>G rs992843651 0.00005
NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe) rs201634470 0.00004
NM_001002755.4(NFU1):c.702G>A (p.Glu234=) rs561482249 0.00003
NM_001002755.2(NFU1):c.-175G>T rs764708513 0.00002
NM_212552.3(BOLA3):c.-8G>A rs886056327 0.00002
NM_001002755.2(NFU1):c.-197T>G rs886056269 0.00001
NM_001002755.4(NFU1):c.-1G>A rs886056267 0.00001
NM_001002755.4(NFU1):c.12G>A (p.Thr4=) rs767315359 0.00001
NM_212552.3(BOLA3):c.*31T>C rs886056326 0.00001
NM_212552.3(BOLA3):c.19G>A (p.Ala7Thr) rs565294723 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.-7G>A rs1208588409
NM_001002755.4(NFU1):c.303-13dup rs372898848
NM_001002755.4(NFU1):c.332G>T (p.Ser111Ile) rs756434076
NM_001002755.4(NFU1):c.495A>T (p.Glu165Asp) rs886056266
NM_001002755.4(NFU1):c.84T>A (p.Asn28Lys) rs1673654615
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_212552.3(BOLA3):c.*134T>C rs1692305544
NM_212552.3(BOLA3):c.181G>A (p.Ala61Thr) rs747762311
NM_212552.3(BOLA3):c.21C>T (p.Ala7=) rs1008159965

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