ClinVar Miner

List of variants in gene BCS1L studied for mitochondrial complex III deficiency nuclear type 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
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_001079866.2(BCS1L):c.1007+16G>A rs115594405 0.01345
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_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_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020 0.00014
NM_001079866.2(BCS1L):c.702C>T (p.Cys234=) rs140405116 0.00012
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_001079866.2(BCS1L):c.325C>T (p.Arg109Trp) rs141257714 0.00009
NM_001079866.2(BCS1L):c.499G>A (p.Val167Met) rs200882008 0.00008
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_001079866.2(BCS1L):c.554G>A (p.Arg185Gln) rs755462817 0.00007
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) rs140812286 0.00006
NM_001079866.2(BCS1L):c.703G>C (p.Gly235Arg) rs368486097 0.00006
NM_001079866.2(BCS1L):c.171C>T (p.Asp57=) rs756932413 0.00005
NM_001079866.2(BCS1L):c.340C>T (p.Arg114Trp) rs778769841 0.00005
NM_001079866.2(BCS1L):c.585G>C (p.Gln195His) rs771252024 0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788 0.00005
NM_001079866.2(BCS1L):c.925T>C (p.Phe309Leu) rs141618813 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.627C>T (p.Ile209=) rs374582626 0.00004
NM_001079866.2(BCS1L):c.965C>G (p.Thr322Ser) rs777854469 0.00004
NM_001079866.2(BCS1L):c.206G>A (p.Arg69His) rs538427220 0.00003
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590 0.00002
NM_001079866.2(BCS1L):c.1157G>A (p.Arg386Gln) rs775817146 0.00002
NM_001079866.2(BCS1L):c.193A>C (p.Ser65Arg) rs749184815 0.00002
NM_001079866.2(BCS1L):c.409T>C (p.Phe137Leu) rs769358314 0.00002
NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp) rs375876694 0.00002
NM_001079866.2(BCS1L):c.1036C>T (p.Arg346Ter) rs550497120 0.00001
NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met) rs121908574 0.00001
NM_001079866.2(BCS1L):c.134G>A (p.Arg45His) rs754414354 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.336G>A (p.Trp112Ter) rs754934987 0.00001
NM_001079866.2(BCS1L):c.348A>G (p.Glu116=) rs1285254792 0.00001
NM_001079866.2(BCS1L):c.528G>A (p.Trp176Ter) rs762980642 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.696del (p.Gly233fs) rs775388576 0.00001
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) rs781666793 0.00001
NM_001079866.2(BCS1L):c.889+1G>T rs1057516346 0.00001
NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys) rs1197613485 0.00001
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His) rs1280810181 0.00001
NM_001079866.2(BCS1L):c.985A>G (p.Met329Val) rs779805975 0.00001
NM_001079866.2(BCS1L):c.-43G>A rs145989550
NM_001079866.2(BCS1L):c.-50+326A>G
NM_001079866.2(BCS1L):c.1000G>C (p.Val334Leu)
NM_001079866.2(BCS1L):c.1001T>C (p.Val334Ala)
NM_001079866.2(BCS1L):c.1007+2_1007+5del rs1553597934
NM_001079866.2(BCS1L):c.1025T>C (p.Ile342Thr)
NM_001079866.2(BCS1L):c.1032G>A (p.Pro344=)
NM_001079866.2(BCS1L):c.1085C>A (p.Thr362Asn)
NM_001079866.2(BCS1L):c.1106A>G (p.Tyr369Cys)
NM_001079866.2(BCS1L):c.1112G>C (p.Gly371Ala)
NM_001079866.2(BCS1L):c.111A>C (p.Gln37His)
NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val) rs886055626
NM_001079866.2(BCS1L):c.115G>T (p.Gly39Cys)
NM_001079866.2(BCS1L):c.1189C>T (p.Gln397Ter)
NM_001079866.2(BCS1L):c.11C>T (p.Ser4Leu)
NM_001079866.2(BCS1L):c.1220del (p.Pro407fs) rs2106333049
NM_001079866.2(BCS1L):c.124G>A (p.Ala42Thr)
NM_001079866.2(BCS1L):c.129C>G (p.Phe43Leu)
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.178T>C (p.Tyr60His)
NM_001079866.2(BCS1L):c.181G>A (p.Ala61Thr)
NM_001079866.2(BCS1L):c.185G>C (p.Trp62Ser)
NM_001079866.2(BCS1L):c.212G>A (p.Ser71Asn)
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) rs749196764
NM_001079866.2(BCS1L):c.259G>A (p.Glu87Lys)
NM_001079866.2(BCS1L):c.25G>A (p.Ala9Thr)
NM_001079866.2(BCS1L):c.268dup (p.Arg90fs)
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) rs121908572
NM_001079866.2(BCS1L):c.308_309insTGCGG (p.His104fs)
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.350del (p.Arg117fs)
NM_001079866.2(BCS1L):c.367A>G (p.Met123Val)
NM_001079866.2(BCS1L):c.372dup (p.Asp125fs) rs1553596638
NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg) rs1057521059
NM_001079866.2(BCS1L):c.399del (p.Glu133fs) rs751484879
NM_001079866.2(BCS1L):c.402_403insTT (p.Val135fs)
NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter) rs1443643776
NM_001079866.2(BCS1L):c.441C>T (p.Phe147=) rs2106324466
NM_001079866.2(BCS1L):c.445A>G (p.Asn149Asp)
NM_001079866.2(BCS1L):c.460+11del rs756708393
NM_001079866.2(BCS1L):c.460+5G>A
NM_001079866.2(BCS1L):c.464G>A (p.Arg155Gln)
NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro) rs121908573
NM_001079866.2(BCS1L):c.476T>A (p.Leu159Ter)
NM_001079866.2(BCS1L):c.493A>T (p.Lys165Ter) rs1559317208
NM_001079866.2(BCS1L):c.497C>T (p.Thr166Ile)
NM_001079866.2(BCS1L):c.522_523del (p.Glu175fs)
NM_001079866.2(BCS1L):c.526T>C (p.Trp176Arg)
NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser) rs1939494232
NM_001079866.2(BCS1L):c.573G>T (p.Val191=)
NM_001079866.2(BCS1L):c.577C>G (p.Leu193Val)
NM_001079866.2(BCS1L):c.580C>T (p.Gln194Ter)
NM_001079866.2(BCS1L):c.604_605insC (p.Val202fs)
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001079866.2(BCS1L):c.655+1G>C rs1057516802
NM_001079866.2(BCS1L):c.666C>G (p.Tyr222Ter)
NM_001079866.2(BCS1L):c.702C>A (p.Cys234Ter)
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.772del (p.Asp258fs) rs1363475546
NM_001079866.2(BCS1L):c.798_799insCACCGGCCTCCACC (p.Asn267fs)
NM_001079866.2(BCS1L):c.821C>T (p.Pro274Leu)
NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn) rs121908571
NM_001079866.2(BCS1L):c.865C>A (p.Leu289Ile)
NM_001079866.2(BCS1L):c.913G>C (p.Gly305Arg)
NM_001079866.2(BCS1L):c.934C>A (p.Leu312Met)
NM_001079866.2(BCS1L):c.950_953del (p.Asp317fs)
NM_001079866.2(BCS1L):c.98G>A (p.Arg33Gln)
NM_001079866.2(BCS1L):c.991A>G (p.Thr331Ala)
NM_001079866.2(BCS1L):c.993_999del (p.Asn332fs)

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