ClinVar Miner

List of variants in gene CBS reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) rs150828989 0.00105
NM_000071.3(CBS):c.1257G>A (p.Leu419=) rs138432416 0.00083
NM_000071.3(CBS):c.1125C>T (p.Pro375=) rs146180894 0.00067
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr) rs112029370 0.00064
NM_000071.3(CBS):c.1380G>A (p.Thr460=) rs765134080 0.00038
NM_000071.3(CBS):c.1479G>A (p.Thr493=) rs143225442 0.00029
NM_000071.3(CBS):c.600G>A (p.Pro200=) rs181472622 0.00029
NM_000071.3(CBS):c.33G>A (p.Gly11=) rs567323664 0.00025
NM_000071.3(CBS):c.1273G>A (p.Val425Met) rs138211175 0.00022
NM_000071.3(CBS):c.339C>T (p.Asn113=) rs140879135 0.00019
NM_000071.3(CBS):c.1644G>C (p.Arg548=) rs143945898 0.00016
NM_000071.3(CBS):c.133C>T (p.Arg45Trp) rs201372812 0.00013
NM_000071.3(CBS):c.1341C>T (p.Pro447=) rs371493662 0.00013
NM_000071.3(CBS):c.1539C>T (p.His513=) rs187828882 0.00013
NM_000071.3(CBS):c.474G>A (p.Ala158=) rs189362155 0.00013
NM_000071.3(CBS):c.489T>C (p.Tyr163=) rs61735858 0.00013
NM_000071.3(CBS):c.1524C>T (p.Phe508=) rs748610628 0.00010
NM_000071.3(CBS):c.1575T>C (p.Ser525=) rs150037641 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.1338G>A (p.Ala446=) rs373962057 0.00007
NM_000071.3(CBS):c.1161C>T (p.Ser387=) rs149280976 0.00006
NM_000071.3(CBS):c.1266G>A (p.Pro422=) rs150146702 0.00006
NM_000071.3(CBS):c.1413G>C (p.Gly471=) rs777859460 0.00006
NM_000071.3(CBS):c.1425G>A (p.Pro475=) rs147885808 0.00006
NM_000071.3(CBS):c.1626C>T (p.Phe542=) rs758818777 0.00006
NM_000071.3(CBS):c.612G>C (p.Val204=) rs539670390 0.00006
NM_000071.3(CBS):c.69G>A (p.Ser23=) rs769704501 0.00006
NM_000071.3(CBS):c.786G>A (p.Thr262=) rs551782391 0.00006
NM_000071.3(CBS):c.774C>T (p.Gly258=) rs764925747 0.00005
NM_000071.3(CBS):c.1512G>A (p.Glu504=) rs149170219 0.00004
NM_000071.3(CBS):c.18C>T (p.Pro6=) rs777370660 0.00004
NM_000071.3(CBS):c.342G>A (p.Ala114=) rs145338910 0.00004
NM_000071.3(CBS):c.501C>T (p.Ile167=) rs754246295 0.00004
NM_000071.3(CBS):c.1083G>A (p.Ala361=) rs781323559 0.00003
NM_000071.3(CBS):c.1272C>T (p.Thr424=) rs141717913 0.00003
NM_000071.3(CBS):c.1287C>T (p.Ile429=) rs770442169 0.00003
NM_000071.3(CBS):c.1326C>G (p.Gly442=) rs750627927 0.00003
NM_000071.3(CBS):c.1356G>A (p.Ala452=) rs776322450 0.00003
NM_000071.3(CBS):c.147G>A (p.Pro49=) rs771719483 0.00003
NM_000071.3(CBS):c.1485G>A (p.Thr495=) rs369903148 0.00003
NM_000071.3(CBS):c.1563C>T (p.Thr521=) rs773052594 0.00003
NM_000071.3(CBS):c.429C>T (p.Ile143=) rs370167302 0.00003
NM_000071.3(CBS):c.435G>A (p.Pro145=) rs148782895 0.00003
NM_000071.3(CBS):c.456C>T (p.Ile152=) rs769438280 0.00003
NM_000071.3(CBS):c.537C>T (p.Asp179=) rs769712423 0.00003
NM_000071.3(CBS):c.609C>T (p.His203=) rs142313595 0.00003
NM_000071.3(CBS):c.615G>C (p.Gly205=) rs773114442 0.00003
NM_000071.3(CBS):c.708C>T (p.Thr236=) rs748495689 0.00003
NM_000071.3(CBS):c.717G>A (p.Glu239=) rs372797469 0.00003
NM_000071.3(CBS):c.903C>T (p.Tyr301=) rs746575551 0.00003
NM_000071.3(CBS):c.924C>T (p.Tyr308=) rs149809170 0.00003
NM_000071.3(CBS):c.1038C>T (p.Cys346=) rs781584799 0.00002
NM_000071.3(CBS):c.1209G>A (p.Thr403=) rs199967147 0.00002
NM_000071.3(CBS):c.1251G>A (p.Leu417=) rs764079534 0.00002
NM_000071.3(CBS):c.1593C>T (p.Phe531=) rs768230991 0.00002
NM_000071.3(CBS):c.1605C>T (p.Thr535=) rs769221457 0.00002
NM_000071.3(CBS):c.297C>T (p.Phe99=) rs749697783 0.00002
NM_000071.3(CBS):c.351C>T (p.Ser117=) rs769149281 0.00002
NM_000071.3(CBS):c.381T>A (p.Ile127=) rs199824647 0.00002
NM_000071.3(CBS):c.384G>A (p.Glu128=) rs374593242 0.00002
NM_000071.3(CBS):c.441C>T (p.Ser147=) rs367669819 0.00002
NM_000071.3(CBS):c.981C>T (p.Asn327=) rs777898632 0.00002
NM_000071.3(CBS):c.1005C>T (p.Ala335=) rs753731849 0.00001
NM_000071.3(CBS):c.1035G>T (p.Leu345=) rs746340769 0.00001
NM_000071.3(CBS):c.1065G>A (p.Ala355=) rs748552493 0.00001
NM_000071.3(CBS):c.1110C>T (p.Cys370=) rs752404089 0.00001
NM_000071.3(CBS):c.1329C>T (p.Phe443=) rs747186128 0.00001
NM_000071.3(CBS):c.1332C>T (p.Asp444=) rs1060503998 0.00001
NM_000071.3(CBS):c.15C>T (p.Thr5=) rs137920248 0.00001
NM_000071.3(CBS):c.168G>A (p.Leu56=) rs752055364 0.00001
NM_000071.3(CBS):c.34C>T (p.Pro12Ser) rs558259739 0.00001
NM_000071.3(CBS):c.675C>T (p.Asn225=) rs145303290 0.00001
NM_000071.3(CBS):c.68C>T (p.Ser23Leu) rs775785018 0.00001
NM_000071.3(CBS):c.72G>A (p.Ala24=) rs145466242 0.00001
NM_000071.3(CBS):c.840G>A (p.Val280=) rs1060500682 0.00001
NM_000071.2(CBS):c.844_845ins68 (p.?)
NM_000071.3(CBS):c.1071C>G (p.Ala357=) rs368206976
NM_000071.3(CBS):c.1071C>T (p.Ala357=) rs368206976
NM_000071.3(CBS):c.1149C>T (p.Thr383=) rs2146344423
NM_000071.3(CBS):c.1165A>C (p.Arg389=) rs1601339535
NM_000071.3(CBS):c.1174C>T (p.Leu392=)
NM_000071.3(CBS):c.1272C>G (p.Thr424=) rs141717913
NM_000071.3(CBS):c.1278C>T (p.Leu426=)
NM_000071.3(CBS):c.1368G>A (p.Leu456=) rs199941488
NM_000071.3(CBS):c.1377G>C (p.Val459=)
NM_000071.3(CBS):c.1416G>A (p.Lys472=)
NM_000071.3(CBS):c.1500G>A (p.Ser500=) rs1057522901
NM_000071.3(CBS):c.1584G>A (p.Gln528=) rs2146315777
NM_000071.3(CBS):c.1599G>A (p.Val533=)
NM_000071.3(CBS):c.177T>G (p.Pro59=)
NM_000071.3(CBS):c.183C>A (p.Ser61=) rs753906914
NM_000071.3(CBS):c.207C>A (p.Ala69=)
NM_000071.3(CBS):c.228C>T (p.Ile76=) rs1555876151
NM_000071.3(CBS):c.234A>G (p.Pro78=)
NM_000071.3(CBS):c.252C>T (p.Ile84=) rs1180701001
NM_000071.3(CBS):c.282G>A (p.Lys94=)
NM_000071.3(CBS):c.321C>T (p.Ala107=) rs1555875422
NM_000071.3(CBS):c.372G>A (p.Leu124=)
NM_000071.3(CBS):c.423G>C (p.Thr141=) rs773579814
NM_000071.3(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.3(CBS):c.555G>T (p.Gly185=) rs1291496530
NM_000071.3(CBS):c.581A>G (p.Asn194Ser)
NM_000071.3(CBS):c.625C>A (p.Arg209=) rs137939628
NM_000071.3(CBS):c.667-4G>A rs750338571
NM_000071.3(CBS):c.714T>C (p.Asp238=)
NM_000071.3(CBS):c.786G>C (p.Thr262=)
NM_000071.3(CBS):c.795C>T (p.Ala265=) rs774812804
NM_000071.3(CBS):c.825C>T (p.Cys275=) rs764638041
NM_000071.3(CBS):c.845_846insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC (p.Pro282_Glu283insSerArgTrpGlyPheCysTrpAlaTer) rs1555874223
NM_000071.3(CBS):c.84G>A (p.Leu28=) rs1601384336
NM_000071.3(CBS):c.864A>C (p.Ala288=) rs2146367182
NM_000071.3(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000071.3(CBS):c.898A>G (p.Thr300Ala)
NM_000071.3(CBS):c.93G>T (p.Gly31=) rs754409674
NM_000071.3(CBS):c.943C>T (p.Leu315=)

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