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

Minimum submission review status:		Collection method:
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: 10

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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.499G>A (p.Val167Met)	rs200882008	0.00008
NM_001079866.2(BCS1L):c.554G>A (p.Arg185Gln)	rs755462817	0.00007
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.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.985A>G (p.Met329Val)	rs779805975	0.00001

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