ClinVar Miner

List of variants studied for Mitochondrial complex III deficiency nuclear type 1

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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_017775.4(TTC19):c.*1236_*1237dup rs61349729 0.59681
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) rs35843327 0.15996
NM_001079866.2(BCS1L):c.655+63C>T rs36085075 0.05627
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) rs33946522 0.05607
NM_017775.3(TTC19):c.-347C>A rs60636875 0.03461
NM_017775.3(TTC19):c.-452G>A rs61747574 0.01028
NM_017775.3(TTC19):c.-107A>T rs79724115 0.00726
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887 0.00295
NM_001079866.2(BCS1L):c.-14G>A rs367721351 0.00103
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) rs146731467 0.00086
NM_017775.3(TTC19):c.*1886T>C rs189970612 0.00066
NM_017775.3(TTC19):c.-340G>C rs200004394 0.00061
NM_001079866.2(BCS1L):c.-50+458T>G rs188224298 0.00058
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590 0.00042
NM_001079866.2(BCS1L):c.126A>G (p.Ala42=) rs144200704 0.00039
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_017775.3(TTC19):c.-73G>A rs149555498 0.00026
NM_017775.3(TTC19):c.-178C>T rs753100200 0.00015
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020 0.00014
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578 0.00011
NM_001079866.2(BCS1L):c.771G>A (p.Thr257=) rs148302981 0.00011
NM_017775.4(TTC19):c.*437del rs886052629 0.00009
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874 0.00008
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289 0.00007
NM_017775.3(TTC19):c.-190C>T rs199843558 0.00007
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) rs140812286 0.00006
NM_017775.3(TTC19):c.-83C>T rs368411974 0.00006
NM_001042697.2(ZSWIM7):c.74G>A (p.Arg25Gln) rs544159811 0.00005
NM_001079866.2(BCS1L):c.-85G>A rs938140522 0.00005
NM_001079866.2(BCS1L):c.171C>T (p.Asp57=) rs756932413 0.00005
NM_001079866.2(BCS1L):c.-50+425T>C rs886055625 0.00004
NM_001079866.2(BCS1L):c.269G>A (p.Arg90His) rs747956412 0.00004
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter) rs770749420 0.00004
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) rs776838028 0.00004
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590 0.00002
NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met) rs121908574 0.00001
NM_001079866.2(BCS1L):c.258T>C (p.His86=) rs886055627 0.00001
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) rs369691608 0.00001
NM_001079866.2(BCS1L):c.321-12G>A rs776363896 0.00001
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) rs121908577 0.00001
NM_001079866.2(BCS1L):c.607dup (p.Arg203fs) rs1057516255 0.00001
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) rs781666793 0.00001
NM_017775.3(TTC19):c.-141G>A rs886052625 0.00001
NM_017775.3(TTC19):c.-444T>C rs886052624 0.00001
NM_001079866.2(BCS1L):c.-43G>A rs145989550
NM_001079866.2(BCS1L):c.-53G>T rs886055624
NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val) rs886055626
NM_001079866.2(BCS1L):c.1220del (p.Pro407fs) rs2106333049
NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys) rs121908575
NM_001079866.2(BCS1L):c.148A>G (p.Thr50Ala) rs121908580
NM_001079866.2(BCS1L):c.170A>G (p.Asp57Gly)
NM_001079866.2(BCS1L):c.185G>C (p.Trp62Ser)
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) rs749196764
NM_001079866.2(BCS1L):c.25G>A (p.Ala9Thr)
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) rs121908572
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg) rs1057521059
NM_001079866.2(BCS1L):c.441C>T (p.Phe147=) rs2106324466
NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro) rs121908573
NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser) rs1939494232
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001079866.2(BCS1L):c.655+1G>C rs1057516802
NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg) rs368486097
NM_001079866.2(BCS1L):c.712A>G (p.Ser238Gly) rs1459378570
NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn) rs121908571
NM_014402.5(UQCRQ):c.*1175del rs67367845
NM_014402.5(UQCRQ):c.-31del rs886059916
NM_017775.3(TTC19):c.-169C>G rs73276077
NM_017775.4(TTC19):c.*1296_*1298dup rs886052636
NM_017775.4(TTC19):c.*1317_*1324dup rs59177775
NM_017775.4(TTC19):c.*1320_*1324dup rs59177775
NM_017775.4(TTC19):c.*1321_*1324dup rs59177775
NM_017775.4(TTC19):c.*1323_*1324dup rs59177775
NM_017775.4(TTC19):c.*1324del rs59177775
NM_017775.4(TTC19):c.*1324dup rs59177775
NM_017775.4(TTC19):c.*1325delinsAAAAAAAAAA rs886052641
NM_017775.4(TTC19):c.*670dup rs764835326
NM_017775.4(TTC19):c.1056_1058del (p.Lys352_Asp353delinsAsn) rs755549162
NM_181705.4(LYRM7):c.245-1G>A

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