List of variants in gene CBS reported as likely benign for Classic homocystinuria

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: 36

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.*383C>T	rs73372352	0.01854
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)	rs34040148	0.01138
NM_000071.3(CBS):c.1145+7C>T	rs201158177	0.00620
NM_000071.3(CBS):c.531+11G>A	rs186114513	0.00479
NM_000071.3(CBS):c.*34G>A	rs374464201	0.00214
NM_000071.3(CBS):c.954+8G>A	rs76292057	0.00188
NM_000071.2(CBS):c.-160C>T	rs112271970	0.00185
NM_000071.3(CBS):c.1059G>A (p.Thr353=)	rs61735859	0.00162
NM_000071.3(CBS):c.1359-14C>T	rs115185587	0.00137
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)	rs150828989	0.00105
NM_000071.3(CBS):c.52C>T (p.Arg18Cys)	rs201827340	0.00086
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)	rs192232907	0.00056
NM_000071.3(CBS):c.33G>A (p.Gly11=)	rs567323664	0.00025
NM_000071.3(CBS):c.133C>T (p.Arg45Trp)	rs201372812	0.00013
NM_000071.3(CBS):c.151A>C (p.Arg51=)	rs754759237	0.00010
NM_000071.3(CBS):c.1632C>T (p.Ala544=)	rs566810122	0.00010
NM_000071.3(CBS):c.894G>A (p.Gln298=)	rs370514077	0.00010
NM_000071.3(CBS):c.1074G>A (p.Val358=)	rs570135008	0.00005
NM_000071.3(CBS):c.1494G>A (p.Arg498=)	rs778800147	0.00005
NM_000071.3(CBS):c.1146-7C>T	rs376749931	0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)	rs756467921	0.00003
NM_000071.3(CBS):c.1356G>A (p.Ala452=)	rs776322450	0.00003
NM_000071.3(CBS):c.435G>A (p.Pro145=)	rs148782895	0.00003
NM_000071.3(CBS):c.537C>T (p.Asp179=)	rs769712423	0.00003
NM_000071.3(CBS):c.924C>T (p.Tyr308=)	rs149809170	0.00003
NM_000071.3(CBS):c.687C>T (p.Pro229=)	rs769298649	0.00001
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NM_000071.2(CBS):c.832_833ins68 (p.?)
NM_000071.3(CBS):c.1089G>A (p.Glu363=)	rs1601343953
NM_000071.3(CBS):c.1290C>T (p.Thr430=)	rs746564702
NM_000071.3(CBS):c.1358+15C>G	rs186497436
NM_000071.3(CBS):c.316+586A>G
NM_000071.3(CBS):c.612G>T (p.Val204=)	rs539670390
NM_000071.3(CBS):c.667-10_667-7del	rs376011228
NM_000071.3(CBS):c.747C>T (p.Asp249=)	rs1601356424
NM_000071.3(CBS):c.845_846insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC (p.Pro282_Glu283insSerArgTrpGlyPheCysTrpAlaTer)	rs1555874223

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