List of variants in gene BCS1L reported as likely pathogenic for Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
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.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.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.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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