List of variants in gene BCS1L reported as pathogenic by GeneDx

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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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.547C>T (p.Arg183Cys)	rs144885874	0.00008
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)	rs201454788	0.00005
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)	rs776838028	0.00004
NM_001079866.2(BCS1L):c.889+1G>T	rs1057516346	0.00001
NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg)	rs1057521059
NM_001079866.2(BCS1L):c.625_626del (p.Ile209fs)	rs863223915

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