List of variants in gene CBS 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.341C>T (p.Ala114Val)	rs121964964	0.00004
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)	rs769080151	0.00003
NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)	rs745764562	0.00001
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)	rs757920190	0.00001
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)	rs755952006	0.00001
NM_000071.3(CBS):c.1051G>C (p.Gly351Arg)	rs774926464
NM_000071.3(CBS):c.1087del (p.Glu363fs)	rs1064794540
NM_000071.3(CBS):c.1223G>A (p.Trp408Ter)	rs863223433
NM_000071.3(CBS):c.153_165del (p.Arg51fs)	rs1555876784
NM_000071.3(CBS):c.340G>A (p.Ala114Thr)	rs377708532
NM_000071.3(CBS):c.502G>A (p.Val168Met)	rs121964970
NM_000071.3(CBS):c.531+1G>A
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)	rs794727835
NM_000071.3(CBS):c.572C>A (p.Thr191Lys)	rs121964973
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)	rs528689432
NM_000071.3(CBS):c.992C>A (p.Ala331Glu)	rs777919630

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