ClinVar Miner

List of variants in gene CBS reported as likely pathogenic

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Total variants: 74
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HGVS dbSNP
NM_000071.2(CBS):c.1007G>A (p.Arg336His) rs760417941
NM_000071.2(CBS):c.1009_1012del (p.Arg336_Met337insTer) rs1555873925
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000071.2(CBS):c.1051G>C (p.Gly351Arg) rs774926464
NM_000071.2(CBS):c.1058C>T (p.Thr353Met) rs121964972
NM_000071.2(CBS):c.1087del (p.Glu363fs) rs1064794540
NM_000071.2(CBS):c.1109G>A (p.Cys370Tyr) rs757920190
NM_000071.2(CBS):c.1111G>A (p.Val371Met) rs372010465
NM_000071.2(CBS):c.1135C>T (p.Arg379Trp) rs769080151
NM_000071.2(CBS):c.1136G>A (p.Arg379Gln) rs763036586
NM_000071.2(CBS):c.1218del (p.Lys406fs) rs794727083
NM_000071.2(CBS):c.1219_1223+8del rs1555872787
NM_000071.2(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.2(CBS):c.1223G>A (p.Trp408Ter) rs863223433
NM_000071.2(CBS):c.1321A>T (p.Lys441Ter) rs1057516645
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.1358+1G>A rs786204679
NM_000071.2(CBS):c.1358+2T>C rs866630296
NM_000071.2(CBS):c.1359-1G>C rs865990681
NM_000071.2(CBS):c.1468-1G>A rs1057516895
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.153_165del (p.Arg51fs) rs1555876784
NM_000071.2(CBS):c.1545del (p.Ile516fs) rs1555871095
NM_000071.2(CBS):c.1552+1G>A rs1434118781
NM_000071.2(CBS):c.1553-1G>C rs1555869979
NM_000071.2(CBS):c.1553-2A>C rs760609383
NM_000071.2(CBS):c.1566del (p.Lys523fs) rs786204466
NM_000071.2(CBS):c.1576C>T (p.Gln526Ter) rs1555869958
NM_000071.2(CBS):c.1603_1604del (p.Thr535fs) rs1555869934
NM_000071.2(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.2(CBS):c.18_36del (p.Glu9fs) rs1057516552
NM_000071.2(CBS):c.209+1G>C rs751464024
NM_000071.2(CBS):c.209+2T>C rs1555876755
NM_000071.2(CBS):c.233C>G (p.Pro78Arg) rs786204608
NM_000071.2(CBS):c.28del (p.Val10fs) rs779250698
NM_000071.2(CBS):c.302T>C (p.Leu101Pro) rs786204757
NM_000071.2(CBS):c.306G>C (p.Lys102Asn) rs786204609
NM_000071.2(CBS):c.316+1G>A rs1057516256
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
NM_000071.2(CBS):c.340G>A (p.Ala114Thr) rs377708532
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.346G>A (p.Gly116Arg) rs760214620
NM_000071.2(CBS):c.361C>T (p.Arg121Cys) rs775992753
NM_000071.2(CBS):c.362G>A (p.Arg121His) rs770095972
NM_000071.2(CBS):c.371_374dup (p.Met126fs) rs755625628
NM_000071.2(CBS):c.373C>T (p.Arg125Trp) rs886057100
NM_000071.2(CBS):c.374G>A (p.Arg125Gln) rs781444670
NM_000071.2(CBS):c.402del (p.Thr135fs) rs1057517083
NM_000071.2(CBS):c.403_404delinsG (p.Thr135fs) rs1555875325
NM_000071.2(CBS):c.430G>A (p.Glu144Lys) rs121964966
NM_000071.2(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000071.2(CBS):c.442G>A (p.Gly148Arg) rs755952006
NM_000071.2(CBS):c.451+1G>T rs1555875292
NM_000071.2(CBS):c.457G>A (p.Gly153Arg)
NM_000071.2(CBS):c.467del (p.Leu156fs) rs767036273
NM_000071.2(CBS):c.532-2A>G rs1568932835
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.572C>A (p.Thr191Lys) rs121964973
NM_000071.2(CBS):c.667-14_667-7del rs764160782
NM_000071.2(CBS):c.676G>A (p.Ala226Thr) rs763835246
NM_000071.2(CBS):c.689del (p.Leu230fs) rs775351239
NM_000071.2(CBS):c.707_708delinsGGTG (p.Thr236fs) rs1057517435
NM_000071.2(CBS):c.737-1G>C rs757428597
NM_000071.2(CBS):c.738delG rs766453711
NM_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000071.2(CBS):c.785C>T (p.Thr262Met) rs149119723
NM_000071.2(CBS):c.797G>A (p.Arg266Lys) rs121964969
NM_000071.2(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000071.2(CBS):c.829-1G>C rs1555874263
NM_000071.2(CBS):c.903C>G (p.Tyr301Ter) rs746575551
NM_000071.2(CBS):c.954+2T>G rs1555874121
NM_000071.2(CBS):c.959T>C (p.Val320Ala) rs781567152
NM_000071.2(CBS):c.992C>A (p.Ala331Glu) rs777919630

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