ClinVar Miner

List of variants in gene CBS studied for not specified

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Gene type:
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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_000071.3(CBS):c.828+23A>G rs73220911 0.12482
NM_000071.3(CBS):c.829-60C>T rs12329764 0.12196
NM_000071.3(CBS):c.829-88G>A rs55767206 0.10093
NM_000071.3(CBS):c.317-46G>C rs75873792 0.03396
NM_000071.3(CBS):c.1467+38A>G rs139077204 0.02609
NM_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_000071.3(CBS):c.531+34G>T rs149674796 0.01001
NM_000071.3(CBS):c.829-12C>T rs75616587 0.00698
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
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.1039+19C>T rs182908734 0.00373
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_000071.3(CBS):c.*34G>A rs374464201 0.00214
NM_000071.3(CBS):c.939G>A (p.Thr313=) rs2228298 0.00204
NM_000071.3(CBS):c.954+8G>A rs76292057 0.00188
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_000071.3(CBS):c.1359-14C>T rs115185587 0.00137
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) rs150828989 0.00105
NM_000071.3(CBS):c.1223+12C>T rs116578198 0.00093
NM_000071.3(CBS):c.*27C>T rs55646248 0.00092
NM_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_000071.3(CBS):c.*18G>A rs200259659 0.00083
NM_000071.3(CBS):c.1257G>A (p.Leu419=) rs138432416 0.00083
NM_000071.3(CBS):c.636C>T (p.Asn212=) rs2298758 0.00068
NM_000071.3(CBS):c.829-13G>A rs201106576 0.00067
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr) rs112029370 0.00064
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 0.00056
NM_000071.3(CBS):c.829-14C>T rs370697155 0.00051
NM_000071.3(CBS):c.954+20C>T rs372327925 0.00051
NM_000071.3(CBS):c.1380G>A (p.Thr460=) rs765134080 0.00038
NM_000071.3(CBS):c.1223+13G>A rs533660793 0.00035
NM_000071.3(CBS):c.1479G>A (p.Thr493=) rs143225442 0.00029
NM_000071.3(CBS):c.1039+20G>A rs548871653 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.489T>C (p.Tyr163=) rs61735858 0.00013
NM_000071.3(CBS):c.670C>T (p.Arg224Cys) rs139456571 0.00013
NM_000071.3(CBS):c.1632C>T (p.Ala544=) rs566810122 0.00010
NM_000071.3(CBS):c.1266G>A (p.Pro422=) rs150146702 0.00006
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg) rs201098477 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.452-12G>T rs780064320 0.00006
NM_000071.3(CBS):c.612G>C (p.Val204=) rs539670390 0.00006
NM_000071.3(CBS):c.737-10C>T rs546751042 0.00006
NM_000071.3(CBS):c.828+20C>T rs771093015 0.00006
NM_000071.3(CBS):c.1494G>A (p.Arg498=) rs778800147 0.00005
NM_000071.3(CBS):c.774C>T (p.Gly258=) rs764925747 0.00005
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu) rs755106884 0.00004
NM_000071.3(CBS):c.*22C>T rs1051316 0.00003
NM_000071.3(CBS):c.*28G>A rs367597108 0.00003
NM_000071.3(CBS):c.1040-16G>A rs755940179 0.00003
NM_000071.3(CBS):c.1224-14C>T rs756737169 0.00003
NM_000071.3(CBS):c.1224-5C>T rs370071493 0.00003
NM_000071.3(CBS):c.1272C>T (p.Thr424=) rs141717913 0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu) rs863223434 0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000071.3(CBS):c.1359-18C>T rs770172764 0.00003
NM_000071.3(CBS):c.147G>A (p.Pro49=) rs771719483 0.00003
NM_000071.3(CBS):c.1563C>T (p.Thr521=) rs773052594 0.00003
NM_000071.3(CBS):c.209C>T (p.Pro70Leu) rs2229413 0.00003
NM_000071.3(CBS):c.317-22G>A rs200724824 0.00003
NM_000071.3(CBS):c.415G>A (p.Gly139Arg) rs121964965 0.00003
NM_000071.3(CBS):c.918C>T (p.Ile306=) rs201950895 0.00003
NM_000071.3(CBS):c.183C>T (p.Ser61=) rs753906914 0.00002
NM_000071.3(CBS):c.959T>C (p.Val320Ala) rs781567152 0.00002
NM_000071.3(CBS):c.1145+9C>T rs745997797 0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu) rs121964971 0.00001
NM_000071.3(CBS):c.144T>G (p.Ala48=) rs770839773 0.00001
NM_000071.3(CBS):c.34C>T (p.Pro12Ser) rs558259739 0.00001
NM_000071.3(CBS):c.447C>T (p.Asn149=) rs1457546374 0.00001
NM_000071.3(CBS):c.675C>T (p.Asn225=) rs145303290 0.00001
NM_000071.3(CBS):c.829-3C>T rs780624117 0.00001
NM_000071.3(CBS):c.954+4G>A rs770671402 0.00001
GRCh37/hg19 21q22.3(chr21:44477206-44488974)
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC
NM_000071.3(CBS):c.*10C>A rs9978104
NM_000071.3(CBS):c.-85+10G>C rs886057102
NM_000071.3(CBS):c.-9+14G>A rs927172505
NM_000071.3(CBS):c.1039G>T (p.Gly347Cys)
NM_000071.3(CBS):c.1096G>A (p.Glu366Lys)
NM_000071.3(CBS):c.1146-20G>A rs1057522600
NM_000071.3(CBS):c.1223+16C>G rs748900028
NM_000071.3(CBS):c.1346T>G (p.Val449Gly)
NM_000071.3(CBS):c.1358+15C>A rs186497436
NM_000071.3(CBS):c.1358+15C>G rs186497436
NM_000071.3(CBS):c.1468-14C>T
NM_000071.3(CBS):c.1471C>T (p.Arg491Cys)
NM_000071.3(CBS):c.1500G>A (p.Ser500=) rs1057522901
NM_000071.3(CBS):c.1552+16C>T rs1555871071
NM_000071.3(CBS):c.1552+21_1552+22del rs1555871062
NM_000071.3(CBS):c.1553-13G>C rs766380369
NM_000071.3(CBS):c.1553-16C>T rs1057522673
NM_000071.3(CBS):c.228C>T (p.Ile76=) rs1555876151
NM_000071.3(CBS):c.233C>G (p.Pro78Arg) rs786204608
NM_000071.3(CBS):c.241C>G (p.Leu81Val)
NM_000071.3(CBS):c.306G>C (p.Lys102Asn) rs786204609
NM_000071.3(CBS):c.348G>T (p.Gly116=) rs902976689
NM_000071.3(CBS):c.423G>C (p.Thr141=) rs773579814
NM_000071.3(CBS):c.451+20G>A rs1057520922
NM_000071.3(CBS):c.491G>A (p.Arg164His)
NM_000071.3(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.3(CBS):c.667-10_667-7del rs376011228
NM_000071.3(CBS):c.825C>T (p.Cys275=) rs764638041
NM_000071.3(CBS):c.844C>T (p.Pro282Ser) rs1057518515
NM_000071.3(CBS):c.845_846insGAAGGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACCTACGAGGTGGAACC (p.Pro282_Glu283insLysGlyProSerSerGlnSerArgArgSerTer) rs786200967
NM_000071.3(CBS):c.874_875delinsTT (p.Glu292Leu) rs1064795178
NM_000071.3(CBS):c.954+18C>G rs1057521202
NM_000071.3(CBS):c.[233C>G;306G>C]

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