List of variants reported as likely pathogenic for HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 68

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.415G>A (p.Gly139Arg)	rs121964965	0.00003
NM_000071.3(CBS):c.301C>G (p.Leu101Val)	rs369644531	0.00002
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)	rs757920190	0.00001
NC_000021.8:g.(?_44473450)_(44485825_?)del
NC_000021.8:g.(?_44476893)_(44480676_?)del
NM_000071.3(CBS):c.1006C>A (p.Arg336Ser)
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)	rs760417941
NM_000071.3(CBS):c.1007G>T (p.Arg336Leu)
NM_000071.3(CBS):c.1013T>C (p.Leu338Pro)
NM_000071.3(CBS):c.1039+5G>C	rs777956934
NM_000071.3(CBS):c.1045A>G (p.Ser349Gly)
NM_000071.3(CBS):c.1047T>G (p.Ser349Arg)
NM_000071.3(CBS):c.1056C>G (p.Ser352Arg)
NM_000071.3(CBS):c.1111G>C (p.Val371Leu)
NM_000071.3(CBS):c.1135C>G (p.Arg379Gly)
NM_000071.3(CBS):c.1145+1G>A
NM_000071.3(CBS):c.1145+1G>C
NM_000071.3(CBS):c.1150A>G (p.Lys384Glu)	rs121964967
NM_000071.3(CBS):c.1359-1G>C	rs865990681
NM_000071.3(CBS):c.1361T>A (p.Val454Glu)
NM_000071.3(CBS):c.1367T>C (p.Leu456Pro)	rs1981524462
NM_000071.3(CBS):c.139G>A (p.Asp47Asn)
NM_000071.3(CBS):c.140A>C (p.Asp47Ala)	rs2146427913
NM_000071.3(CBS):c.1467+1G>A	rs111687029
NM_000071.3(CBS):c.1468-1G>A	rs1057516895
NM_000071.3(CBS):c.154T>A (p.Cys52Ser)	rs2146427772
NM_000071.3(CBS):c.1553-1G>C	rs1555869979
NM_000071.3(CBS):c.1553-2A>C	rs760609383
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)	rs121964968
NM_000071.3(CBS):c.194A>T (p.His65Leu)
NM_000071.3(CBS):c.208_209+8del	rs1983427704
NM_000071.3(CBS):c.209+1_209+8del	rs2146427112
NM_000071.3(CBS):c.210-1G>C	rs2146414477
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
NM_000071.3(CBS):c.263C>G (p.Pro88Arg)
NM_000071.3(CBS):c.284T>A (p.Ile95Asn)
NM_000071.3(CBS):c.316+1G>A	rs1057516256
NM_000071.3(CBS):c.316+2_316+3del
NM_000071.3(CBS):c.317-2A>G	rs2146395543
NM_000071.3(CBS):c.326G>A (p.Cys109Tyr)
NM_000071.3(CBS):c.340G>A (p.Ala114Thr)	rs377708532
NM_000071.3(CBS):c.340G>T (p.Ala114Ser)	rs377708532
NM_000071.3(CBS):c.359A>G (p.Asp120Gly)	rs1982750491
NM_000071.3(CBS):c.361C>G (p.Arg121Gly)
NM_000071.3(CBS):c.369C>A (p.Ser123Arg)	rs1555875387
NM_000071.3(CBS):c.434C>G (p.Pro145Arg)
NM_000071.3(CBS):c.443G>C (p.Gly148Ala)
NM_000071.3(CBS):c.451+1G>T	rs1555875292
NM_000071.3(CBS):c.452-1G>A
NM_000071.3(CBS):c.472G>A (p.Ala158Thr)
NM_000071.3(CBS):c.502G>A (p.Val168Met)	rs121964970
NM_000071.3(CBS):c.526G>C (p.Glu176Gln)
NM_000071.3(CBS):c.527A>G (p.Glu176Gly)
NM_000071.3(CBS):c.528G>C (p.Glu176Asp)
NM_000071.3(CBS):c.531+1G>A
NM_000071.3(CBS):c.531+1G>T	rs1207298097
NM_000071.3(CBS):c.676G>T (p.Ala226Ser)
NM_000071.3(CBS):c.677C>A (p.Ala226Asp)
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.776G>A (p.Gly259Asp)
NM_000071.3(CBS):c.784A>G (p.Thr262Ala)
NM_000071.3(CBS):c.920G>A (p.Gly307Asp)
NM_000071.3(CBS):c.920G>C (p.Gly307Ala)
NM_000071.3(CBS):c.920G>T (p.Gly307Val)
NM_000071.3(CBS):c.954+1G>A	rs1057517373
NM_000071.3(CBS):c.954+2T>G	rs1555874121
NM_000071.3(CBS):c.992C>T (p.Ala331Val)	rs777919630

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.