ClinVar Miner

List of variants in gene CBS reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 116
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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.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.1146-110C>A rs138222805 0.00562
NM_000071.3(CBS):c.210-45dup rs397805342 0.00190
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) rs150828989 0.00105
NM_000071.3(CBS):c.1125C>T (p.Pro375=) rs146180894 0.00067
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr) rs112029370 0.00064
NM_000071.3(CBS):c.1380G>A (p.Thr460=) rs765134080 0.00038
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.1039+20G>A rs548871653 0.00013
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.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.786G>A (p.Thr262=) rs551782391 0.00006
NM_000071.3(CBS):c.828+20C>T rs771093015 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.1494G>A (p.Arg498=) rs778800147 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.1040-16G>A rs755940179 0.00003
NM_000071.3(CBS):c.1083G>A (p.Ala361=) rs781323559 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.1359-18C>T rs770172764 0.00003
NM_000071.3(CBS):c.1359-9G>A rs202137317 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.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.1605C>T (p.Thr535=) rs769221457 0.00002
NM_000071.3(CBS):c.183C>T (p.Ser61=) rs753906914 0.00002
NM_000071.3(CBS):c.532-13T>C rs757869040 0.00002
NM_000071.3(CBS):c.1110C>T (p.Cys370=) rs752404089 0.00001
NM_000071.3(CBS):c.1145+9C>T rs745997797 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.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.829-3C>T rs780624117 0.00001
NM_000071.3(CBS):c.954+4G>A rs770671402 0.00001
NC_000021.9:g.43053130C>T rs114892713
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+10G>C rs886057102
NM_000071.3(CBS):c.-85+78G>C rs191574093
NM_000071.3(CBS):c.-9+14G>A rs927172505
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.1146-20G>A rs1057522600
NM_000071.3(CBS):c.1146-68G>A rs147006826
NM_000071.3(CBS):c.1223+123_1224-87del rs1416544817
NM_000071.3(CBS):c.1223+16C>G rs748900028
NM_000071.3(CBS):c.1358+15C>A rs186497436
NM_000071.3(CBS):c.1358+15C>G rs186497436
NM_000071.3(CBS):c.1468-132A>C rs77459968
NM_000071.3(CBS):c.1468-219G>A rs143698976
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+201G>A rs138874126
NM_000071.3(CBS):c.1552+21_1552+22del rs1555871062
NM_000071.3(CBS):c.1553-101T>C rs73906414
NM_000071.3(CBS):c.1553-13G>C rs766380369
NM_000071.3(CBS):c.1553-157dup rs372427824
NM_000071.3(CBS):c.1553-16C>T rs1057522673
NM_000071.3(CBS):c.1553-48C>T rs114623741
NM_000071.3(CBS):c.228C>T (p.Ile76=) rs1555876151
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.348G>T (p.Gly116=) rs902976689
NM_000071.3(CBS):c.451+197del rs144404003
NM_000071.3(CBS):c.451+20G>A rs1057520922
NM_000071.3(CBS):c.625C>A (p.Arg209=) rs137939628
NM_000071.3(CBS):c.667-10_667-7del rs376011228
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+18C>G rs1057521202
NM_000071.3(CBS):c.954+47C>T rs57282132
NM_000071.3(CBS):c.955-48C>T rs73372374
NM_000071.3(CBS):c.990G>A (p.Glu330=) rs1373353287

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