List of variants in gene CBS reported as pathogenic by Eurofins Ntd Llc (ga)

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	rs5742905	0.00083
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	rs28934891	0.00026
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)	rs121964962	0.00025
NM_000071.3(CBS):c.1224-2A>C	rs375846341	0.00008
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	rs121964972	0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	rs781444670	0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met)	rs149119723	0.00003
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)	rs398123151	0.00002
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)	rs778220779	0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)	rs121964966	0.00002
NM_000071.3(CBS):c.28del (p.Val10fs)	rs779250698	0.00001
NM_000071.3(CBS):c.1218del (p.Lys406fs)	rs794727083
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs)	rs1555871188
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)	rs863223432

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