ClinVar Miner

List of variants in gene BCS1L studied for Leigh syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_001079866.2(BCS1L):c.-14G>A rs367721351
NM_001079866.2(BCS1L):c.-43G>A rs145989550
NM_001079866.2(BCS1L):c.-50+425T>C rs886055625
NM_001079866.2(BCS1L):c.-50+458T>G rs188224298
NM_001079866.2(BCS1L):c.-53G>T rs886055624
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) rs35843327
NM_001079866.2(BCS1L):c.321-12G>A rs776363896
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) rs121908577
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) rs781666793
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) rs33946522
NM_001257342.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576
NM_001257342.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590
NM_001318836.2(BCS1L):c.-40-161T>C rs886055627
NM_001318836.2(BCS1L):c.-40-218C>T rs142540289
NM_001318836.2(BCS1L):c.-40-307C>G rs886055626

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