ClinVar Miner

List of variants in gene CBS reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.317-46G>C rs75873792 0.03396
NM_000071.3(CBS):c.1467+317G>A rs375968402 0.02605
NM_000071.3(CBS):c.829-320G>A rs112219271 0.02175
NM_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_000071.3(CBS):c.955-108C>A rs113678154 0.01389
NM_000071.3(CBS):c.*81G>A rs115406358 0.01211
NM_000071.3(CBS):c.829-91G>A rs150181241 0.01153
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_000071.3(CBS):c.1040-275G>A rs115880859 0.00873
NM_000071.3(CBS):c.*566G>A rs111969522 0.00793
NM_000071.3(CBS):c.1145+241A>G rs112218368 0.00754
NM_000071.3(CBS):c.209+236G>A rs115368814 0.00742
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.1146-110C>A rs138222805 0.00562
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_000071.3(CBS):c.939G>A (p.Thr313=) rs2228298 0.00204
NM_000071.3(CBS):c.210-45dup rs397805342 0.00190
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.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_000071.3(CBS):c.*18G>A rs200259659 0.00083
NM_000071.3(CBS):c.1125C>T (p.Pro375=) rs146180894 0.00067
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.829-14C>T rs370697155 0.00051
NM_000071.3(CBS):c.954+20C>T rs372327925 0.00051
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00038
NM_000071.3(CBS):c.1479G>A (p.Thr493=) rs143225442 0.00029
NM_000071.3(CBS):c.33G>A (p.Gly11=) rs567323664 0.00025
NM_000071.3(CBS):c.829-11G>T rs371619788 0.00025
NM_000071.3(CBS):c.339C>T (p.Asn113=) rs140879135 0.00019
NM_000071.3(CBS):c.1072G>A (p.Val358Met) rs148589243 0.00013
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.151A>C (p.Arg51=) rs754759237 0.00010
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.894G>A (p.Gln298=) rs370514077 0.00010
NM_000071.3(CBS):c.1338G>A (p.Ala446=) rs373962057 0.00007
NM_000071.3(CBS):c.345C>T (p.Gly115=) rs374438247 0.00007
NM_000071.3(CBS):c.1039+3G>A rs747384273 0.00006
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.612G>C (p.Val204=) rs539670390 0.00006
NM_000071.3(CBS):c.737-10C>T rs546751042 0.00006
NM_000071.3(CBS):c.786G>A (p.Thr262=) rs551782391 0.00006
NM_000071.3(CBS):c.954+7C>T rs554429567 0.00006
NM_000071.3(CBS):c.1074G>A (p.Val358=) rs570135008 0.00005
NM_000071.3(CBS):c.1281G>A (p.Pro427=) rs563330591 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.1146-4G>A rs778414187 0.00003
NM_000071.3(CBS):c.1359-9G>A rs202137317 0.00003
NM_000071.3(CBS):c.429C>T (p.Ile143=) rs370167302 0.00003
NM_000071.3(CBS):c.456C>T (p.Ile152=) rs769438280 0.00003
NM_000071.3(CBS):c.525C>T (p.Ser175=) rs767850964 0.00003
NM_000071.3(CBS):c.615G>C (p.Gly205=) rs773114442 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.1251G>A (p.Leu417=) rs764079534 0.00002
NM_000071.3(CBS):c.1605C>T (p.Thr535=) rs769221457 0.00002
NM_000071.3(CBS):c.532-13T>C rs757869040 0.00002
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.1146-5C>T rs941685349 0.00001
NM_000071.3(CBS):c.1398G>A (p.Ser466=) rs766199408 0.00001
NM_000071.3(CBS):c.666+10C>A rs773040114 0.00001
NC_000021.9:g.43053130C>T rs114892713
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.3(CBS):c.*53_*55del rs1442787650
NM_000071.3(CBS):c.*681A>G rs111413325
NM_000071.3(CBS):c.-6C>A rs1601384805
NM_000071.3(CBS):c.-84-216A>G rs150773867
NM_000071.3(CBS):c.-85+78G>C rs191574093
NM_000071.3(CBS):c.1040-115G>C rs187967192
NM_000071.3(CBS):c.1146-10C>G rs1379534542
NM_000071.3(CBS):c.1146-199T>C rs143246802
NM_000071.3(CBS):c.1146-68G>A rs147006826
NM_000071.3(CBS):c.1223+123_1224-87del rs1416544817
NM_000071.3(CBS):c.1358+15C>G rs186497436
NM_000071.3(CBS):c.1358+7C>T rs1341743668
NM_000071.3(CBS):c.1368G>T (p.Leu456=) rs199941488
NM_000071.3(CBS):c.1468-132A>C rs77459968
NM_000071.3(CBS):c.1468-219G>A rs143698976
NM_000071.3(CBS):c.1552+201G>A rs138874126
NM_000071.3(CBS):c.1553-101T>C rs73906414
NM_000071.3(CBS):c.1553-157dup rs372427824
NM_000071.3(CBS):c.1553-48C>T rs114623741
NM_000071.3(CBS):c.183C>A (p.Ser61=) rs753906914
NM_000071.3(CBS):c.316+524G>A
NM_000071.3(CBS):c.317-225C>T rs142215670
NM_000071.3(CBS):c.317-319A>G rs73906421
NM_000071.3(CBS):c.317-70dup rs772361626
NM_000071.3(CBS):c.451+197del rs144404003
NM_000071.3(CBS):c.625C>A (p.Arg209=) rs137939628
NM_000071.3(CBS):c.667-4G>A rs750338571
NM_000071.3(CBS):c.669C>T (p.Tyr223=) rs1366764579
NM_000071.3(CBS):c.737-174T>C rs78789995
NM_000071.3(CBS):c.737-225C>T rs138347850
NM_000071.3(CBS):c.954+47C>T rs57282132
NM_000071.3(CBS):c.954G>A (p.Thr318=) rs776122644
NM_000071.3(CBS):c.955-48C>T rs73372374
NM_000071.3(CBS):c.990G>A (p.Glu330=) rs1373353287

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