ClinVar Miner

List of variants studied for Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001079866.2(BCS1L):c.1007+16G>A rs115594405 0.01345
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590 0.00042
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.499G>A (p.Val167Met) rs200882008 0.00008
NM_001079866.2(BCS1L):c.554G>A (p.Arg185Gln) rs755462817 0.00007
NM_001079866.2(BCS1L):c.-85G>A rs938140522 0.00005
NM_001079866.2(BCS1L):c.585G>C (p.Gln195His) rs771252024 0.00005
NM_001079866.2(BCS1L):c.925T>C (p.Phe309Leu) rs141618813 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.627C>T (p.Ile209=) rs374582626 0.00004
NM_001079866.2(BCS1L):c.206G>A (p.Arg69His) rs538427220 0.00003
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.134G>A (p.Arg45His) rs754414354 0.00001
NM_001079866.2(BCS1L):c.348A>G (p.Glu116=) rs1285254792 0.00001
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) rs121908577 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.985A>G (p.Met329Val) rs779805975 0.00001
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) rs749196764
NM_001079866.2(BCS1L):c.308_309insTGCGG (p.His104fs)
NM_001079866.2(BCS1L):c.402_403insTT (p.Val135fs)
NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter) rs1443643776
NM_001079866.2(BCS1L):c.460+11del rs756708393
NM_001079866.2(BCS1L):c.476T>A (p.Leu159Ter)
NM_001079866.2(BCS1L):c.522_523del (p.Glu175fs)
NM_001079866.2(BCS1L):c.604_605insC (p.Val202fs)
NM_001079866.2(BCS1L):c.702C>A (p.Cys234Ter)
NM_001079866.2(BCS1L):c.798_799insCACCGGCCTCCACC (p.Asn267fs)

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