List of variants in gene BCS1L reported as likely pathogenic by GeneDx

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.550C>T (p.Arg184Cys)	rs121908578	0.00011
NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp)	rs141257714	0.00009
NM_001079866.2(BCS1L):c.269G>A (p.Arg90His)	rs747956412	0.00003
NM_001079866.2(BCS1L):c.134G>A (p.Arg45His)	rs754414354	0.00001
NM_001079866.2(BCS1L):c.320+1G>T	rs386833856
NM_001079866.2(BCS1L):c.642G>A (p.Trp214Ter)	rs754414954
NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg)	rs368486097
NM_001079866.2(BCS1L):c.725C>G (p.Ala242Gly)	rs1057522861
NM_001079866.2(BCS1L):c.838C>T (p.Leu280Phe)	rs1064796486

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