ClinVar Miner

List of variants in gene CBS reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 198
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_000071.3(CBS):c.362G>A (p.Arg121His) rs770095972 0.00010
NM_000071.3(CBS):c.770C>T (p.Thr257Met) rs758236584 0.00010
NM_000071.3(CBS):c.572C>T (p.Thr191Met) rs121964973 0.00006
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu) rs755106884 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) rs771298943 0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) rs121964972 0.00003
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp) rs769080151 0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu) rs863223434 0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) rs781444670 0.00003
NM_000071.3(CBS):c.415G>A (p.Gly139Arg) rs121964965 0.00003
NM_000071.3(CBS):c.737-1G>C rs757428597 0.00003
NM_000071.3(CBS):c.775G>A (p.Gly259Ser) rs143124288 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.301C>G (p.Leu101Val) rs369644531 0.00002
NM_000071.3(CBS):c.325T>C (p.Cys109Arg) rs778220779 0.00002
NM_000071.3(CBS):c.361C>T (p.Arg121Cys) rs775992753 0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000071.3(CBS):c.689del (p.Leu230fs) rs775351239 0.00002
NM_000071.3(CBS):c.959T>C (p.Val320Ala) rs781567152 0.00002
NM_000071.3(CBS):c.1007G>A (p.Arg336His) rs760417941 0.00001
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.1111G>A (p.Val371Met) rs372010465 0.00001
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln) rs763036586 0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu) rs121964971 0.00001
NM_000071.3(CBS):c.28del (p.Val10fs) rs779250698 0.00001
NM_000071.3(CBS):c.373C>T (p.Arg125Trp) rs886057100 0.00001
NM_000071.3(CBS):c.442G>A (p.Gly148Arg) rs755952006 0.00001
NM_000071.3(CBS):c.797G>A (p.Arg266Lys) rs121964969 0.00001
NM_000071.3(CBS):c.828+1G>A rs763290176 0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn) rs758447354 0.00001
GRCh37/hg19 21q22.3(chr21:44473972-44480656)x1
NC_000021.8:g.(?_44473450)_(44485825_?)del
NC_000021.8:g.(?_44476893)_(44480676_?)del
NC_000021.9:g.(?_43060421)_(43062415_?)dup
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.1009_1012del (p.Arg336_Met337insTer) rs1555873925
NM_000071.3(CBS):c.1013T>C (p.Leu338Pro)
NM_000071.3(CBS):c.1036T>C (p.Cys346Arg)
NM_000071.3(CBS):c.1039+2T>C
NM_000071.3(CBS):c.1039+5G>C rs777956934
NM_000071.3(CBS):c.1040-2A>G
NM_000071.3(CBS):c.1045A>G (p.Ser349Gly)
NM_000071.3(CBS):c.1047T>G (p.Ser349Arg)
NM_000071.3(CBS):c.1051G>C (p.Gly351Arg) rs774926464
NM_000071.3(CBS):c.1056C>G (p.Ser352Arg)
NM_000071.3(CBS):c.1064C>T (p.Ala355Val) rs772384826
NM_000071.3(CBS):c.1075A>T (p.Lys359Ter)
NM_000071.3(CBS):c.1087del (p.Glu363fs) rs1064794540
NM_000071.3(CBS):c.1111G>C (p.Val371Leu)
NM_000071.3(CBS):c.1126G>A (p.Asp376Asn) rs1170128038
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.1179del (p.Lys394fs)
NM_000071.3(CBS):c.1210G>T (p.Glu404Ter) rs1981682654
NM_000071.3(CBS):c.1218del (p.Lys406fs) rs794727083
NM_000071.3(CBS):c.1219_1223+8del rs1555872787
NM_000071.3(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.3(CBS):c.1223G>A (p.Trp408Ter) rs863223433
NM_000071.3(CBS):c.1259C>A (p.Ser420Ter)
NM_000071.3(CBS):c.1288_1289del (p.Thr430fs)
NM_000071.3(CBS):c.1306G>T (p.Glu436Ter)
NM_000071.3(CBS):c.1318G>T (p.Glu440Ter)
NM_000071.3(CBS):c.1321A>T (p.Lys441Ter) rs1057516645
NM_000071.3(CBS):c.1341del (p.Val448fs) rs2146340713
NM_000071.3(CBS):c.1358+1G>A rs786204679
NM_000071.3(CBS):c.1358+2T>A
NM_000071.3(CBS):c.1358+2T>C rs866630296
NM_000071.3(CBS):c.1359-1G>C rs865990681
NM_000071.3(CBS):c.1359-2A>T
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.1456C>T (p.Gln486Ter)
NM_000071.3(CBS):c.1467+1G>A rs111687029
NM_000071.3(CBS):c.1468-1G>A rs1057516895
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs) rs1555871188
NM_000071.3(CBS):c.153_165del (p.Arg51fs) rs1555876784
NM_000071.3(CBS):c.1545del (p.Ile516fs) rs1555871095
NM_000071.3(CBS):c.154T>A (p.Cys52Ser) rs2146427772
NM_000071.3(CBS):c.1552+1G>A rs1434118781
NM_000071.3(CBS):c.1553-1G>C rs1555869979
NM_000071.3(CBS):c.1553-2A>C rs760609383
NM_000071.3(CBS):c.1566del (p.Lys523fs) rs786204466
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter) rs1555869958
NM_000071.3(CBS):c.1603_1604del (p.Thr535fs) rs1555869934
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.3(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.3(CBS):c.18_36del (p.Glu9fs) rs1057516552
NM_000071.3(CBS):c.194A>T (p.His65Leu)
NM_000071.3(CBS):c.208_209+8del rs1983427704
NM_000071.3(CBS):c.209+1G>A rs751464024
NM_000071.3(CBS):c.209+1G>C rs751464024
NM_000071.3(CBS):c.209+1G>T
NM_000071.3(CBS):c.209+1_209+8del rs2146427112
NM_000071.3(CBS):c.209+2T>C rs1555876755
NM_000071.3(CBS):c.210-1G>C rs2146414477
NM_000071.3(CBS):c.218_230del (p.Ser73fs)
NM_000071.3(CBS):c.233C>G (p.Pro78Arg) rs786204608
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
NM_000071.3(CBS):c.262C>T (p.Pro88Ser) rs2146413970
NM_000071.3(CBS):c.263C>G (p.Pro88Arg)
NM_000071.3(CBS):c.284T>A (p.Ile95Asn)
NM_000071.3(CBS):c.284T>C (p.Ile95Thr) rs1347662650
NM_000071.3(CBS):c.302T>C (p.Leu101Pro) rs786204757
NM_000071.3(CBS):c.306G>C (p.Lys102Asn) rs786204609
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.323del (p.Lys108fs)
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.346G>A (p.Gly116Arg) rs760214620
NM_000071.3(CBS):c.353_362del (p.Val118fs)
NM_000071.3(CBS):c.359A>G (p.Asp120Gly) rs1982750491
NM_000071.3(CBS):c.359_368del (p.Asp120fs) rs2146394968
NM_000071.3(CBS):c.361C>G (p.Arg121Gly)
NM_000071.3(CBS):c.362G>T (p.Arg121Leu) rs770095972
NM_000071.3(CBS):c.369C>A (p.Ser123Arg) rs1555875387
NM_000071.3(CBS):c.371_374dup (p.Met126fs) rs755625628
NM_000071.3(CBS):c.402del (p.Thr135fs) rs1057517083
NM_000071.3(CBS):c.403_404delinsG (p.Thr135fs) rs1555875325
NM_000071.3(CBS):c.407T>C (p.Leu136Pro)
NM_000071.3(CBS):c.429C>G (p.Ile143Met) rs370167302
NM_000071.3(CBS):c.430G>T (p.Glu144Ter) rs121964966
NM_000071.3(CBS):c.434C>G (p.Pro145Arg)
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) rs121964963
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.457G>A (p.Gly153Arg) rs745704046
NM_000071.3(CBS):c.467del (p.Leu156fs) rs767036273
NM_000071.3(CBS):c.472G>A (p.Ala158Thr)
NM_000071.3(CBS):c.481del (p.Arg161fs) rs2146387904
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.3(CBS):c.503_504del (p.Val168fs)
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.529A>T (p.Lys177Ter) rs1982601982
NM_000071.3(CBS):c.531+1G>A
NM_000071.3(CBS):c.531+1G>T rs1207298097
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.580_599del (p.Asn194fs)
NM_000071.3(CBS):c.588del (p.Arg196fs)
NM_000071.3(CBS):c.606dup (p.His203fs)
NM_000071.3(CBS):c.637G>T (p.Glu213Ter) rs758703098
NM_000071.3(CBS):c.667-14_667-7del rs764160782
NM_000071.3(CBS):c.676G>A (p.Ala226Thr) rs763835246
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.689T>A (p.Leu230Gln)
NM_000071.3(CBS):c.707_708delinsGGTG (p.Thr236fs) rs1057517435
NM_000071.3(CBS):c.715G>T (p.Glu239Ter) rs1982493665
NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)
NM_000071.3(CBS):c.736_736+8del
NM_000071.3(CBS):c.738del rs766453711
NM_000071.3(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000071.3(CBS):c.767G>T (p.Gly256Val)
NM_000071.3(CBS):c.776G>A (p.Gly259Asp)
NM_000071.3(CBS):c.784A>G (p.Thr262Ala)
NM_000071.3(CBS):c.796A>G (p.Arg266Gly)
NM_000071.3(CBS):c.808_810del (p.Glu270del) rs760710691
NM_000071.3(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000071.3(CBS):c.829-1G>C rs1555874263
NM_000071.3(CBS):c.862G>A (p.Ala288Thr) rs141502207
NM_000071.3(CBS):c.862G>C (p.Ala288Pro) rs141502207
NM_000071.3(CBS):c.869C>A (p.Pro290Gln) rs760912339
NM_000071.3(CBS):c.869C>T (p.Pro290Leu) rs760912339
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)
NM_000071.3(CBS):c.903C>A (p.Tyr301Ter) rs746575551
NM_000071.3(CBS):c.903C>G (p.Tyr301Ter) rs746575551
NM_000071.3(CBS):c.904G>A (p.Glu302Lys) rs779270933
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.949A>G (p.Arg317Gly)
NM_000071.3(CBS):c.954+1G>A rs1057517373
NM_000071.3(CBS):c.954+2T>G rs1555874121
NM_000071.3(CBS):c.955-2A>G
NM_000071.3(CBS):c.95delinsATAAGAGACAGT (p.Ser32fs)
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000071.3(CBS):c.978del (p.Ser326fs)
NM_000071.3(CBS):c.98del (p.Pro33fs) rs2146428203
NM_000071.3(CBS):c.992C>A (p.Ala331Glu) rs777919630
NM_000071.3(CBS):c.992C>T (p.Ala331Val) rs777919630

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