ClinVar Miner

List of variants in gene CBS reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
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.700G>A (p.Asp234Asn) rs773734233 0.00010
NM_000071.3(CBS):c.770C>T (p.Thr257Met) rs758236584 0.00010
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000071.3(CBS):c.572C>T (p.Thr191Met) rs121964973 0.00006
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000071.3(CBS):c.451G>A (p.Gly151Arg) rs373782713 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.2T>C (p.Met1Thr) rs769766030 0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) rs781444670 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.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.1111G>A (p.Val371Met) rs372010465 0.00001
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln) rs763036586 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.473C>T (p.Ala158Val) rs1376851289 0.00001
NM_000071.3(CBS):c.494G>A (p.Cys165Tyr) rs1347651454 0.00001
NM_000071.3(CBS):c.736+1G>A rs1166621523 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
NC_000021.8:g.(?_44478245)_(44485815_?)del
NC_000021.8:g.(?_44479024)_(44485181_?)del
NC_000021.8:g.(?_44479686)_(44483266_?)del
NC_000021.8:g.(?_44486453)_(44486477_?)del
NC_000021.8:g.(?_44488599)_(44492323_?)del
NC_000021.8:g.(?_44492085)_(44496976_?)del
NC_000021.9:g.(?_43058125)_(43065715_?)del
NC_000021.9:g.(?_43060421)_(43062415_?)dup
NM_000071.3(CBS):c.1005_1006delinsTT (p.Arg336Cys) rs1064793703
NM_000071.3(CBS):c.1087del (p.Glu363fs) rs1064794540
NM_000071.3(CBS):c.1126G>A (p.Asp376Asn) rs1170128038
NM_000071.3(CBS):c.1169G>A (p.Trp390Ter) rs2146344203
NM_000071.3(CBS):c.118del (p.Glu40fs)
NM_000071.3(CBS):c.1218del (p.Lys406fs) rs794727083
NM_000071.3(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.3(CBS):c.1223+1G>T rs1601339216
NM_000071.3(CBS):c.1226G>A (p.Trp409Ter) rs376916741
NM_000071.3(CBS):c.1227G>A (p.Trp409Ter) rs1332950288
NM_000071.3(CBS):c.1358+1G>A rs786204679
NM_000071.3(CBS):c.1397C>A (p.Ser466Ter) rs121964971
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.1543C>T (p.Gln515Ter)
NM_000071.3(CBS):c.1549del (p.Gln517fs)
NM_000071.3(CBS):c.1561del (p.Thr521fs)
NM_000071.3(CBS):c.1566del (p.Lys523fs) rs786204466
NM_000071.3(CBS):c.156C>A (p.Cys52Ter) rs1983442077
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter) rs1555869958
NM_000071.3(CBS):c.1582C>T (p.Gln528Ter)
NM_000071.3(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.3(CBS):c.184dup (p.Glu62fs) rs2146427417
NM_000071.3(CBS):c.194A>G (p.His65Arg) rs1191141364
NM_000071.3(CBS):c.19del (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.209+1G>A rs751464024
NM_000071.3(CBS):c.209+1G>C rs751464024
NM_000071.3(CBS):c.253G>A (p.Gly85Arg) rs863223435
NM_000071.3(CBS):c.256del (p.Asp86fs) rs1208139876
NM_000071.3(CBS):c.258dup (p.Thr87fs)
NM_000071.3(CBS):c.262C>T (p.Pro88Ser) rs2146413970
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.346G>A (p.Gly116Arg) rs760214620
NM_000071.3(CBS):c.362G>T (p.Arg121Leu) rs770095972
NM_000071.3(CBS):c.371_374dup (p.Met126fs) rs755625628
NM_000071.3(CBS):c.379del (p.Ile127fs)
NM_000071.3(CBS):c.382G>T (p.Glu128Ter)
NM_000071.3(CBS):c.402del (p.Thr135fs) rs1057517083
NM_000071.3(CBS):c.407del (p.Leu136fs)
NM_000071.3(CBS):c.427dup (p.Ile143fs) rs2146393861
NM_000071.3(CBS):c.429C>G (p.Ile143Met) rs370167302
NM_000071.3(CBS):c.430G>C (p.Glu144Gln) rs121964966
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000071.3(CBS):c.444dup (p.Asn149fs) rs2146393621
NM_000071.3(CBS):c.452-153_624dup rs1568932440
NM_000071.3(CBS):c.456C>G (p.Ile152Met)
NM_000071.3(CBS):c.456_477del (p.Ile152fs) rs2146387963
NM_000071.3(CBS):c.457G>A (p.Gly153Arg) rs745704046
NM_000071.3(CBS):c.476_477insCAGGGCCC (p.Val160fs) rs1982618780
NM_000071.3(CBS):c.481del (p.Arg161fs) rs2146387904
NM_000071.3(CBS):c.493T>G (p.Cys165Gly) rs1234354755
NM_000071.3(CBS):c.526G>A (p.Glu176Lys) rs762065361
NM_000071.3(CBS):c.526G>T (p.Glu176Ter) rs762065361
NM_000071.3(CBS):c.532-1G>A rs2146385603
NM_000071.3(CBS):c.532-2A>G rs1568932835
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.3(CBS):c.580_599del (p.Asn194fs)
NM_000071.3(CBS):c.624G>A (p.Trp208Ter) rs774174074
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.684C>A (p.Asn228Lys) rs1464223176
NM_000071.3(CBS):c.702del (p.Asp234fs) rs2146381604
NM_000071.3(CBS):c.727C>T (p.Gln243Ter)
NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)
NM_000071.3(CBS):c.736+2T>G rs863223430
NM_000071.3(CBS):c.738del rs766453711
NM_000071.3(CBS):c.740_769del (p.Lys247_Gly256del)
NM_000071.3(CBS):c.754del (p.Val252fs)
NM_000071.3(CBS):c.766G>A (p.Gly256Ser) rs1000697114
NM_000071.3(CBS):c.785C>G (p.Thr262Arg)
NM_000071.3(CBS):c.78dup (p.Ser27fs)
NM_000071.3(CBS):c.815_816del (p.Cys272fs)
NM_000071.3(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000071.3(CBS):c.825C>A (p.Cys275Ter)
NM_000071.3(CBS):c.829-249_878del rs2146366969
NM_000071.3(CBS):c.837_841dup (p.Asp281fs)
NM_000071.3(CBS):c.869C>T (p.Pro290Leu) rs760912339
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)
NM_000071.3(CBS):c.892dup (p.Gln298fs)
NM_000071.3(CBS):c.904G>A (p.Glu302Lys) rs779270933
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000071.3(CBS):c.98del (p.Pro33fs) rs2146428203
NM_000071.3(CBS):c.992C>A (p.Ala331Glu) rs777919630

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