ClinVar Miner

List of variants in gene CBS reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr) rs112029370 0.00064
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00038
NM_000071.3(CBS):c.1273G>A (p.Val425Met) rs138211175 0.00022
NM_000071.3(CBS):c.856A>G (p.Ile286Val) rs147040567 0.00020
NM_000071.3(CBS):c.397G>A (p.Asp133Asn) rs539326697 0.00019
NM_000071.3(CBS):c.5C>T (p.Pro2Leu) rs546530618 0.00019
NM_000071.3(CBS):c.1072G>A (p.Val358Met) rs148589243 0.00013
NM_000071.3(CBS):c.670C>T (p.Arg224Cys) rs139456571 0.00013
NM_000071.3(CBS):c.1642C>T (p.Arg548Trp) rs766444814 0.00012
NM_000071.3(CBS):c.221C>T (p.Pro74Leu) rs762862715 0.00011
NM_000071.3(CBS):c.1223+5G>A rs372609349 0.00010
NM_000071.3(CBS):c.404C>T (p.Thr135Met) rs144832032 0.00009
NM_000071.3(CBS):c.134G>A (p.Arg45Gln) rs759502207 0.00008
NM_000071.3(CBS):c.400G>A (p.Gly134Arg) rs147474549 0.00008
NM_000071.3(CBS):c.847G>A (p.Glu283Lys) rs765811825 0.00008
NM_000071.3(CBS):c.1039+3G>A rs747384273 0.00006
NM_000071.3(CBS):c.1315C>T (p.Arg439Trp) rs780508029 0.00006
NM_000071.3(CBS):c.1379C>T (p.Thr460Met) rs752596508 0.00006
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg) rs201098477 0.00006
NM_000071.3(CBS):c.1472G>A (p.Arg491His) rs747419767 0.00006
NM_000071.3(CBS):c.1525G>A (p.Ala509Thr) rs1060500680 0.00006
NM_000071.3(CBS):c.352G>A (p.Val118Met) rs763385546 0.00006
NM_000071.3(CBS):c.610G>A (p.Val204Met) rs372679328 0.00006
NM_000071.3(CBS):c.65A>G (p.His22Arg) rs763151207 0.00006
NM_000071.3(CBS):c.1468-6T>G rs771250766 0.00005
NM_000071.3(CBS):c.1564G>A (p.Gly522Arg) rs201916339 0.00005
NM_000071.3(CBS):c.953C>T (p.Thr318Met) rs769541394 0.00005
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu) rs755106884 0.00004
NM_000071.3(CBS):c.71C>T (p.Ala24Val) rs759682004 0.00004
NM_000071.3(CBS):c.1009A>G (p.Met337Val) rs372822486 0.00003
NM_000071.3(CBS):c.1106G>A (p.Arg369His) rs11700812 0.00003
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro) rs371214833 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.1484C>T (p.Thr495Met) rs772344567 0.00003
NM_000071.3(CBS):c.152G>A (p.Arg51Lys) rs370983323 0.00003
NM_000071.3(CBS):c.1594G>A (p.Gly532Arg) rs748953468 0.00003
NM_000071.3(CBS):c.209C>T (p.Pro70Leu) rs2229413 0.00003
NM_000071.3(CBS):c.296T>C (p.Phe99Ser) rs112029370 0.00003
NM_000071.3(CBS):c.412C>T (p.Pro138Ser) rs765702034 0.00003
NM_000071.3(CBS):c.538G>A (p.Val180Met) rs759402521 0.00003
NM_000071.3(CBS):c.588G>C (p.Arg196Ser) rs555751528 0.00003
NM_000071.3(CBS):c.616G>A (p.Val206Met) rs369220569 0.00003
NM_000071.3(CBS):c.791T>C (p.Ile264Thr) rs760212248 0.00003
NM_000071.3(CBS):c.1337C>T (p.Ala446Val) rs757347527 0.00002
NM_000071.3(CBS):c.1342G>A (p.Val448Met) rs865989946 0.00002
NM_000071.3(CBS):c.545G>A (p.Arg182Gln) rs138314784 0.00002
NM_000071.3(CBS):c.599C>T (p.Pro200Leu) rs758712880 0.00002
NM_000071.3(CBS):c.637G>A (p.Glu213Lys) rs758703098 0.00002
NM_000071.3(CBS):c.921C>G (p.Gly307=) rs147875876 0.00002
NM_000071.3(CBS):c.925G>A (p.Asp309Asn) rs540013184 0.00002
NM_000071.3(CBS):c.1019C>T (p.Ala340Val) rs1282760211 0.00001
NM_000071.3(CBS):c.1070C>G (p.Ala357Gly) rs863223437 0.00001
NM_000071.3(CBS):c.1325G>A (p.Gly442Asp) rs1324151005 0.00001
NM_000071.3(CBS):c.1353G>C (p.Glu451Asp) rs367962613 0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu) rs121964971 0.00001
NM_000071.3(CBS):c.1478C>T (p.Thr493Met) rs996249907 0.00001
NM_000071.3(CBS):c.1600G>A (p.Val534Ile) rs779569366 0.00001
NM_000071.3(CBS):c.172C>T (p.Arg58Trp) rs555959266 0.00001
NM_000071.3(CBS):c.210-3C>T rs562656023 0.00001
NM_000071.3(CBS):c.34C>T (p.Pro12Ser) rs558259739 0.00001
NM_000071.3(CBS):c.395G>A (p.Arg132His) rs779011920 0.00001
NM_000071.3(CBS):c.401G>C (p.Gly134Ala) rs766958673 0.00001
NM_000071.3(CBS):c.422C>T (p.Thr141Met) rs771178320 0.00001
NM_000071.3(CBS):c.463G>A (p.Ala155Thr) rs1429138569 0.00001
NM_000071.3(CBS):c.505A>T (p.Met169Leu) rs1371228792 0.00001
NM_000071.3(CBS):c.548C>T (p.Ala183Val) rs374464810 0.00001
NM_000071.3(CBS):c.632A>G (p.Lys211Arg) rs201118737 0.00001
NM_000071.3(CBS):c.676G>C (p.Ala226Pro) rs763835246 0.00001
NM_000071.3(CBS):c.68C>T (p.Ser23Leu) rs775785018 0.00001
NM_000071.3(CBS):c.736+4C>T rs756191746 0.00001
NM_000071.3(CBS):c.736+5G>A rs750518463 0.00001
NM_000071.3(CBS):c.736+6T>C rs201727754 0.00001
NM_000071.3(CBS):c.79_81dup (p.Ser27dup) rs754535608 0.00001
NM_000071.3(CBS):c.829-3C>T rs780624117 0.00001
NC_000021.8:g.(?_44472301)_(44497040_?)dup
NC_000021.8:g.(?_44473450)_(44492323_?)dup
NC_000021.8:g.(?_44473970)_(44492323_?)dup
NC_000021.9:g.(?_43053340)_(43056907_?)del
NC_000021.9:g.(?_43053340)_(43076866_?)dup
NM_000071.3(CBS):c.1039+6T>G rs1601349690
NM_000071.3(CBS):c.103G>A (p.Asp35Asn)
NM_000071.3(CBS):c.103G>T (p.Asp35Tyr)
NM_000071.3(CBS):c.1040G>C (p.Gly347Ala)
NM_000071.3(CBS):c.1064C>T (p.Ala355Val) rs772384826
NM_000071.3(CBS):c.106A>G (p.Lys36Glu) rs904453895
NM_000071.3(CBS):c.1076A>T (p.Lys359Met) rs779940364
NM_000071.3(CBS):c.1080_1081delinsTA (p.Ala361Thr) rs1555873407
NM_000071.3(CBS):c.1082C>T (p.Ala361Val) rs370851632
NM_000071.3(CBS):c.1090_1098dup (p.Leu364_Glu366dup) rs2146352325
NM_000071.3(CBS):c.1108T>C (p.Cys370Arg)
NM_000071.3(CBS):c.1114G>A (p.Val372Ile) rs775354680
NM_000071.3(CBS):c.1141T>C (p.Tyr381His) rs267606145
NM_000071.3(CBS):c.1146-3C>T rs2146344469
NM_000071.3(CBS):c.1148C>T (p.Thr383Ile) rs1568924550
NM_000071.3(CBS):c.1162G>A (p.Asp388Asn)
NM_000071.3(CBS):c.1179G>T (p.Gln393His) rs2146344173
NM_000071.3(CBS):c.1192A>G (p.Lys398Glu)
NM_000071.3(CBS):c.1208C>A (p.Thr403Lys) rs886042297
NM_000071.3(CBS):c.1208C>T (p.Thr403Met) rs886042297
NM_000071.3(CBS):c.1210_1212del (p.Glu404del) rs1555872822
NM_000071.3(CBS):c.1212G>C (p.Glu404Asp)
NM_000071.3(CBS):c.1213A>C (p.Lys405Gln) rs570121873
NM_000071.3(CBS):c.1237C>T (p.Arg413Cys) rs767595472
NM_000071.3(CBS):c.1238G>A (p.Arg413His)
NM_000071.3(CBS):c.1252G>A (p.Gly418Ser) rs1200734227
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.3(CBS):c.1273G>C (p.Val425Leu)
NM_000071.3(CBS):c.1355C>T (p.Ala452Val)
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu) rs886039146
NM_000071.3(CBS):c.1359G>C (p.Gly453=) rs1307473439
NM_000071.3(CBS):c.1373T>C (p.Met458Thr)
NM_000071.3(CBS):c.1381C>T (p.Leu461Phe)
NM_000071.3(CBS):c.1382T>G (p.Leu461Arg)
NM_000071.3(CBS):c.13A>G (p.Thr5Ala) rs2146429088
NM_000071.3(CBS):c.1424C>T (p.Pro475Leu)
NM_000071.3(CBS):c.1448T>C (p.Ile483Thr)
NM_000071.3(CBS):c.1451A>G (p.Tyr484Cys) rs1555871913
NM_000071.3(CBS):c.1451A>T (p.Tyr484Phe) rs1555871913
NM_000071.3(CBS):c.1457A>G (p.Gln486Arg) rs2146337741
NM_000071.3(CBS):c.1467+4C>T rs1981503515
NM_000071.3(CBS):c.1467G>A (p.Gln489=)
NM_000071.3(CBS):c.1471C>T (p.Arg491Cys)
NM_000071.3(CBS):c.14C>A (p.Thr5Asn)
NM_000071.3(CBS):c.1507C>G (p.Leu503Val)
NM_000071.3(CBS):c.1514T>G (p.Met505Arg) rs1981234989
NM_000071.3(CBS):c.1538A>G (p.His513Arg)
NM_000071.3(CBS):c.1552+5G>A
NM_000071.3(CBS):c.155G>A (p.Cys52Tyr) rs779777933
NM_000071.3(CBS):c.1576C>A (p.Gln526Lys) rs1555869958
NM_000071.3(CBS):c.1579C>T (p.Arg527Trp) rs1455031864
NM_000071.3(CBS):c.1580G>A (p.Arg527Gln) rs551198487
NM_000071.3(CBS):c.1597G>T (p.Val533Leu) rs1568916218
NM_000071.3(CBS):c.1633G>A (p.Ala545Thr)
NM_000071.3(CBS):c.1634C>T (p.Ala545Val) rs754031824
NM_000071.3(CBS):c.1645G>A (p.Asp549Asn) rs1980865900
NM_000071.3(CBS):c.1648C>A (p.Gln550Lys)
NM_000071.3(CBS):c.1654T>G (p.Ter552Gly)
NM_000071.3(CBS):c.1656A>C (p.Ter552Cys) rs1365095601
NM_000071.3(CBS):c.179C>T (p.Ala60Val) rs765352771
NM_000071.3(CBS):c.184G>A (p.Glu62Lys)
NM_000071.3(CBS):c.209+5G>C rs1555876750
NM_000071.3(CBS):c.209C>G (p.Pro70Arg)
NM_000071.3(CBS):c.233C>G (p.Pro78Arg) rs786204608
NM_000071.3(CBS):c.23C>G (p.Ala8Gly)
NM_000071.3(CBS):c.23C>T (p.Ala8Val) rs919403971
NM_000071.3(CBS):c.28G>T (p.Val10Leu)
NM_000071.3(CBS):c.297C>G (p.Phe99Leu) rs749697783
NM_000071.3(CBS):c.298G>A (p.Gly100Ser)
NM_000071.3(CBS):c.306G>C (p.Lys102Asn) rs786204609
NM_000071.3(CBS):c.313C>G (p.Leu105Val) rs1601375543
NM_000071.3(CBS):c.316+5G>C rs1601375508
NM_000071.3(CBS):c.323A>G (p.Lys108Arg) rs2146395442
NM_000071.3(CBS):c.344G>A (p.Gly115Asp)
NM_000071.3(CBS):c.381T>G (p.Ile127Met) rs199824647
NM_000071.3(CBS):c.393G>C (p.Glu131Asp) rs1555875351
NM_000071.3(CBS):c.394C>A (p.Arg132Ser) rs140002610
NM_000071.3(CBS):c.400G>C (p.Gly134Arg) rs147474549
NM_000071.3(CBS):c.421A>G (p.Thr141Ala) rs2146393956
NM_000071.3(CBS):c.426T>G (p.Ile142Met)
NM_000071.3(CBS):c.450C>A (p.Thr150=)
NM_000071.3(CBS):c.450C>T (p.Thr150=) rs750030593
NM_000071.3(CBS):c.451+20G>T rs1057520922
NM_000071.3(CBS):c.451G>T (p.Gly151Trp) rs373782713
NM_000071.3(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.3(CBS):c.49C>A (p.His17Asn) rs2146428735
NM_000071.3(CBS):c.518T>G (p.Met173Arg) rs1982605960
NM_000071.3(CBS):c.52C>A (p.Arg18Ser) rs201827340
NM_000071.3(CBS):c.530A>C (p.Lys177Thr)
NM_000071.3(CBS):c.542T>C (p.Leu181Pro)
NM_000071.3(CBS):c.544C>T (p.Arg182Trp)
NM_000071.3(CBS):c.554G>A (p.Gly185Glu)
NM_000071.3(CBS):c.56C>T (p.Ser19Leu)
NM_000071.3(CBS):c.581A>G (p.Asn194Ser)
NM_000071.3(CBS):c.596C>G (p.Ser199Cys) rs1982554358
NM_000071.3(CBS):c.59G>A (p.Gly20Glu) rs1983457688
NM_000071.3(CBS):c.622T>C (p.Trp208Arg) rs1060500683
NM_000071.3(CBS):c.624G>T (p.Trp208Cys) rs774174074
NM_000071.3(CBS):c.626G>A (p.Arg209Gln) rs781759129
NM_000071.3(CBS):c.626G>C (p.Arg209Pro)
NM_000071.3(CBS):c.638A>G (p.Glu213Gly)
NM_000071.3(CBS):c.667-3C>A
NM_000071.3(CBS):c.671G>A (p.Arg224His)
NM_000071.3(CBS):c.671G>T (p.Arg224Leu) rs761647392
NM_000071.3(CBS):c.685C>A (p.Pro229Thr) rs375730175
NM_000071.3(CBS):c.698_699inv (p.Tyr233Cys)
NM_000071.3(CBS):c.709G>A (p.Ala237Thr)
NM_000071.3(CBS):c.710C>T (p.Ala237Val) rs1568931765
NM_000071.3(CBS):c.731G>A (p.Cys244Tyr) rs1982489718
NM_000071.3(CBS):c.737-10C>A
NM_000071.3(CBS):c.737-10C>G
NM_000071.3(CBS):c.745G>A (p.Asp249Asn) rs767397847
NM_000071.3(CBS):c.748A>G (p.Met250Val) rs777884368
NM_000071.3(CBS):c.748A>T (p.Met250Leu)
NM_000071.3(CBS):c.749T>A (p.Met250Lys) rs1555874564
NM_000071.3(CBS):c.750G>A (p.Met250Ile) rs863223431
NM_000071.3(CBS):c.750G>C (p.Met250Ile)
NM_000071.3(CBS):c.75G>T (p.Lys25Asn) rs1484147890
NM_000071.3(CBS):c.761C>T (p.Ser254Leu)
NM_000071.3(CBS):c.808G>A (p.Glu270Lys)
NM_000071.3(CBS):c.808_810del (p.Glu270del) rs760710691
NM_000071.3(CBS):c.817C>T (p.Pro273Ser) rs2146374921
NM_000071.3(CBS):c.829-2dup
NM_000071.3(CBS):c.838G>A (p.Val280Met) rs1982225866
NM_000071.3(CBS):c.857T>C (p.Ile286Thr) rs1060500681
NM_000071.3(CBS):c.862G>T (p.Ala288Ser) rs141502207
NM_000071.3(CBS):c.866A>G (p.Glu289Gly) rs1601352415
NM_000071.3(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000071.3(CBS):c.938C>T (p.Thr313Met)
NM_000071.3(CBS):c.946G>A (p.Asp316Asn) rs2146366197
NM_000071.3(CBS):c.954+5G>T rs1568928886
NM_000071.3(CBS):c.954G>A (p.Thr318=) rs776122644
NM_000071.3(CBS):c.955-3C>T
NM_000071.3(CBS):c.987G>C (p.Glu329Asp) rs765151853

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