ClinVar Miner

List of variants in gene BCS1L reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590 0.00042
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
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.340C>T (p.Arg114Trp) rs778769841 0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788 0.00005
NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met) rs775793638 0.00001
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) rs121908577 0.00001
NC_000002.11:g.(?_219524378)_(219528167_?)del
NM_001079866.2(BCS1L):c.1186del (p.Val396fs)
NM_001079866.2(BCS1L):c.167G>A (p.Arg56Gln)
NM_001079866.2(BCS1L):c.1A>T (p.Met1Leu)
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.478C>T (p.Gln160Ter) rs373105002
NM_001079866.2(BCS1L):c.487G>A (p.Glu163Lys)
NM_001079866.2(BCS1L):c.950_953del (p.Asp317fs)

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