List of variants in gene CBS reported as uncertain significance for not specified

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: 27

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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.954+8G>A	rs76292057	0.00188
NM_000071.3(CBS):c.*18G>A	rs200259659	0.00083
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)	rs112029370	0.00064
NM_000071.3(CBS):c.1223+13G>A	rs533660793	0.00035
NM_000071.3(CBS):c.670C>T (p.Arg224Cys)	rs139456571	0.00013
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg)	rs201098477	0.00006
NM_000071.3(CBS):c.737-10C>T	rs546751042	0.00006
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu)	rs755106884	0.00004
NM_000071.3(CBS):c.*22C>T	rs1051316	0.00003
NM_000071.3(CBS):c.*28G>A	rs367597108	0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)	rs863223434	0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)	rs756467921	0.00003
NM_000071.3(CBS):c.415G>A (p.Gly139Arg)	rs121964965	0.00003
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)	rs121964971	0.00001
GRCh37/hg19 21q22.3(chr21:44477206-44488974)
NM_000071.3(CBS):c.1039G>T (p.Gly347Cys)
NM_000071.3(CBS):c.1096G>A (p.Glu366Lys)
NM_000071.3(CBS):c.1346T>G (p.Val449Gly)
NM_000071.3(CBS):c.1471C>T (p.Arg491Cys)
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)	rs786204608
NM_000071.3(CBS):c.241C>G (p.Leu81Val)
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)	rs786204609
NM_000071.3(CBS):c.491G>A (p.Arg164His)
NM_000071.3(CBS):c.844C>T (p.Pro282Ser)	rs1057518515
NM_000071.3(CBS):c.874_875delinsTT (p.Glu292Leu)	rs1064795178
NM_000071.3(CBS):c.[233C>G;306G>C]

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