List of variants in gene CBS reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)	rs117687681	0.00255
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)	rs112029370	0.00064
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)	rs192232907	0.00056
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)	rs140002610	0.00038
NM_000071.3(CBS):c.1273G>A (p.Val425Met)	rs138211175	0.00022
NM_000071.3(CBS):c.1072G>A (p.Val358Met)	rs148589243	0.00013
NM_000071.3(CBS):c.953C>T (p.Thr318Met)	rs769541394	0.00005
NM_000071.3(CBS):c.1106G>A (p.Arg369His)	rs11700812	0.00003
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)	rs758447354	0.00001
NM_000071.3(CBS):c.170G>A (p.Gly57Asp)	rs1295461215
NM_000071.3(CBS):c.450C>T (p.Thr150=)	rs750030593
NM_000071.3(CBS):c.667-10_667-7del	rs376011228

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