ClinVar Miner

List of variants reported as likely pathogenic for mitochondrial complex III deficiency nuclear type 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
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.325C>T (p.Arg109Trp) rs141257714 0.00009
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874 0.00008
NM_001079866.2(BCS1L):c.703G>C (p.Gly235Arg) rs368486097 0.00006
NM_001079866.2(BCS1L):c.340C>T (p.Arg114Trp) rs778769841 0.00005
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.518G>A (p.Gly173Asp) rs375876694 0.00002
NM_001079866.2(BCS1L):c.1036C>T (p.Arg346Ter) rs550497120 0.00001
NM_001079866.2(BCS1L):c.336G>A (p.Trp112Ter) rs754934987 0.00001
NM_001079866.2(BCS1L):c.528G>A (p.Trp176Ter) rs762980642 0.00001
NM_001079866.2(BCS1L):c.696del (p.Gly233fs) rs775388576 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.1007+2_1007+5del rs1553597934
NM_001079866.2(BCS1L):c.1189C>T (p.Gln397Ter)
NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys) rs121908575
NM_001079866.2(BCS1L):c.268dup (p.Arg90fs)
NM_001079866.2(BCS1L):c.350del (p.Arg117fs)
NM_001079866.2(BCS1L):c.372dup (p.Asp125fs) rs1553596638
NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter) rs1443643776
NM_001079866.2(BCS1L):c.464G>A (p.Arg155Gln)
NM_001079866.2(BCS1L):c.493A>T (p.Lys165Ter) rs1559317208
NM_001079866.2(BCS1L):c.580C>T (p.Gln194Ter)
NM_001079866.2(BCS1L):c.666C>G (p.Tyr222Ter)
NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg) rs368486097
NM_001079866.2(BCS1L):c.772del (p.Asp258fs) rs1363475546
NM_001079866.2(BCS1L):c.950_953del (p.Asp317fs)
NM_001079866.2(BCS1L):c.993_999del (p.Asn332fs)

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