List of variants in gene CBS reported as uncertain significance by Counsyl

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)	rs140002610	0.00038
NM_000071.3(CBS):c.829-11G>T	rs371619788	0.00025
NM_000071.3(CBS):c.953C>T (p.Thr318Met)	rs769541394	0.00005
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)	rs121964971	0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)	rs758447354	0.00001
NM_000071.3(CBS):c.*19G>A	rs1555869794
NM_000071.3(CBS):c.*19G>C	rs1555869794
NM_000071.3(CBS):c.*20T>C	rs1555869789
NM_000071.3(CBS):c.1061_1069del (p.Val354_Val356del)	rs863223436
NM_000071.3(CBS):c.1210_1212del (p.Glu404del)	rs1555872822
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)	rs28934892
NM_000071.3(CBS):c.1301C>A (p.Thr434Asn)	rs1555872506
NM_000071.3(CBS):c.1304T>C (p.Ile435Thr)	rs1282119406
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)	rs121964968
NM_000071.3(CBS):c.1656A>C (p.Ter552Cys)	rs1365095601
NM_000071.3(CBS):c.539T>C (p.Val180Ala)	rs1555875010
NM_000071.3(CBS):c.650C>T (p.Ser217Phe)	rs1555874874
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)	rs1555874803
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)	rs1176770868
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)	rs141502207

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