ClinVar Miner

List of variants in gene CBS reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 378
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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.*123C>G rs1051319 0.21968
NM_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
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.-136C>T rs543595103 0.00096
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.833T>C (p.Ile278Thr) rs5742905 0.00083
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.394C>T (p.Arg132Cys) rs140002610 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.600G>A (p.Pro200=) rs181472622 0.00029
NM_000071.3(CBS):c.829-11G>T rs371619788 0.00025
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.133C>T (p.Arg45Trp) rs201372812 0.00013
NM_000071.3(CBS):c.1539C>T (p.His513=) rs187828882 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.1146-12C>T rs199550738 0.00010
NM_000071.3(CBS):c.1223+5G>A rs372609349 0.00010
NM_000071.3(CBS):c.770C>T (p.Thr257Met) rs758236584 0.00010
NM_000071.3(CBS):c.894G>A (p.Gln298=) rs370514077 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.888G>A (p.Thr296=) rs769593715 0.00007
NM_000071.3(CBS):c.1039+3G>A rs747384273 0.00006
NM_000071.3(CBS):c.1067T>C (p.Val356Ala) rs370163789 0.00006
NM_000071.3(CBS):c.1161C>T (p.Ser387=) rs149280976 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.1425G>A (p.Pro475=) rs147885808 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.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.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.1281G>A (p.Pro427=) rs563330591 0.00004
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu) rs755106884 0.00004
NM_000071.3(CBS):c.1512G>A (p.Glu504=) rs149170219 0.00004
NM_000071.3(CBS):c.175C>T (p.Pro59Ser) rs376496085 0.00004
NM_000071.3(CBS):c.71C>T (p.Ala24Val) rs759682004 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.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.2T>C (p.Met1Thr) rs769766030 0.00003
NM_000071.3(CBS):c.412C>T (p.Pro138Ser) rs765702034 0.00003
NM_000071.3(CBS):c.415G>A (p.Gly139Arg) rs121964965 0.00003
NM_000071.3(CBS):c.435G>A (p.Pro145=) rs148782895 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.924C>T (p.Tyr308=) rs149809170 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.301C>G (p.Leu101Val) rs369644531 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.1005C>T (p.Ala335=) rs753731849 0.00001
NM_000071.3(CBS):c.1019C>T (p.Ala340Val) rs1282760211 0.00001
NM_000071.3(CBS):c.1065G>A (p.Ala355=) rs748552493 0.00001
NM_000071.3(CBS):c.1070C>G (p.Ala357Gly) rs863223437 0.00001
NM_000071.3(CBS):c.1081G>A (p.Ala361Thr) rs745764562 0.00001
NM_000071.3(CBS):c.1262C>A (p.Ala421Asp) rs886039021 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.1551G>A (p.Gln517=) rs750311684 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
NM_000071.3(CBS):c.982G>A (p.Asp328Asn) rs758447354 0.00001
GRCh37/hg19 21q22.3(chr21:44477206-44488974)
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_000071.2(CBS):c.-242T>C rs1983687076
NM_000071.3(CBS):c.*132G>C rs550053103
NM_000071.3(CBS):c.*140G>A rs544806265
NM_000071.3(CBS):c.*19G>A rs1555869794
NM_000071.3(CBS):c.*19G>C rs1555869794
NM_000071.3(CBS):c.*20T>C rs1555869789
NM_000071.3(CBS):c.*286A>G rs998021241
NM_000071.3(CBS):c.*296T>C rs4987122
NM_000071.3(CBS):c.*305T>C rs1202078818
NM_000071.3(CBS):c.*394C>T rs1175113287
NM_000071.3(CBS):c.*409G>A rs571374721
NM_000071.3(CBS):c.*409G>T rs571374721
NM_000071.3(CBS):c.*472C>T rs886057096
NM_000071.3(CBS):c.*55_*57del rs886057097
NM_000071.3(CBS):c.*592T>A rs866356348
NM_000071.3(CBS):c.*80C>T rs141447394
NM_000071.3(CBS):c.-4C>A
NM_000071.3(CBS):c.-50dup rs886057101
NM_000071.3(CBS):c.-81C>T rs1983542635
NM_000071.3(CBS):c.-85+10G>C rs886057102
NM_000071.3(CBS):c.-86_-85+13delinsTGAAGGGTACCGCGA rs1568943606
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro) rs760417941
NM_000071.3(CBS):c.1009A>C (p.Met337Leu) rs372822486
NM_000071.3(CBS):c.1017C>T (p.Ile339=) rs773933333
NM_000071.3(CBS):c.1039+6T>G rs1601349690
NM_000071.3(CBS):c.1039G>T (p.Gly347Cys)
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.1061_1069del (p.Val354_Val356del) rs863223436
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.1071C>T (p.Ala357=) rs368206976
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.1096G>A (p.Glu366Lys)
NM_000071.3(CBS):c.1108T>C (p.Cys370Arg)
NM_000071.3(CBS):c.1114G>A (p.Val372Ile) rs775354680
NM_000071.3(CBS):c.1114G>T (p.Val372Phe) rs775354680
NM_000071.3(CBS):c.1119T>G (p.Ile373Met)
NM_000071.3(CBS):c.112G>A (p.Ala38Thr) rs1064795253
NM_000071.3(CBS):c.1141T>C (p.Tyr381His) rs267606145
NM_000071.3(CBS):c.1146-3C>T rs2146344469
NM_000071.3(CBS):c.1146-6C>T rs1981696579
NM_000071.3(CBS):c.1148C>T (p.Thr383Ile) rs1568924550
NM_000071.3(CBS):c.1162G>A (p.Asp388Asn)
NM_000071.3(CBS):c.1166G>C (p.Arg389Thr) rs1383178636
NM_000071.3(CBS):c.1179G>T (p.Gln393His) rs2146344173
NM_000071.3(CBS):c.1192A>G (p.Lys398Glu)
NM_000071.3(CBS):c.1194GGA[2] (p.Glu400del) rs745438246
NM_000071.3(CBS):c.1195G>A (p.Glu399Lys) rs1485255027
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.1213AAG[1] (p.Lys406del) rs780555741
NM_000071.3(CBS):c.1216A>C (p.Lys406Gln)
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.1301C>A (p.Thr434Asn) rs1555872506
NM_000071.3(CBS):c.1304T>C (p.Ile435Thr) rs1282119406
NM_000071.3(CBS):c.1310T>C (p.Ile437Thr) rs2146341072
NM_000071.3(CBS):c.132C>G (p.Ile44Met)
NM_000071.3(CBS):c.1346T>G (p.Val449Gly)
NM_000071.3(CBS):c.1355C>T (p.Ala452Val)
NM_000071.3(CBS):c.1357G>T (p.Gly453Trp) rs886057099
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.1400C>T (p.Ser467Phe)
NM_000071.3(CBS):c.1424C>T (p.Pro475Leu)
NM_000071.3(CBS):c.1431C>A (p.Asp477Glu) rs1555871920
NM_000071.3(CBS):c.1436T>C (p.Val479Ala) rs886038933
NM_000071.3(CBS):c.1438G>A (p.Gly480Ser)
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.1453A>G (p.Lys485Glu) rs886057098
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.149G>A (p.Ser50Asn)
NM_000071.3(CBS):c.14C>A (p.Thr5Asn)
NM_000071.3(CBS):c.1507C>G (p.Leu503Val)
NM_000071.3(CBS):c.1513A>G (p.Met505Val) rs2146328317
NM_000071.3(CBS):c.1514T>G (p.Met505Arg) rs1981234989
NM_000071.3(CBS):c.1516G>A (p.Asp506Asn)
NM_000071.3(CBS):c.1526C>T (p.Ala509Val) rs794727161
NM_000071.3(CBS):c.1527C>T (p.Ala509=) rs794727162
NM_000071.3(CBS):c.1538A>G (p.His513Arg)
NM_000071.3(CBS):c.1539C>G (p.His513Gln) rs187828882
NM_000071.3(CBS):c.153G>T (p.Arg51Ser)
NM_000071.3(CBS):c.1552+5G>A
NM_000071.3(CBS):c.1553-5C>G
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.1606G>A (p.Ala536Thr)
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.3(CBS):c.162G>A (p.Trp54Ter) rs199948079
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.170G>A (p.Gly57Asp) rs1295461215
NM_000071.3(CBS):c.179C>T (p.Ala60Val) rs765352771
NM_000071.3(CBS):c.184G>A (p.Glu62Lys)
NM_000071.3(CBS):c.202A>G (p.Thr68Ala)
NM_000071.3(CBS):c.209+2dup
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.241C>G (p.Leu81Val)
NM_000071.3(CBS):c.251T>C (p.Ile84Thr)
NM_000071.3(CBS):c.260C>T (p.Thr87Ile)
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
NM_000071.3(CBS):c.265A>T (p.Met89Leu)
NM_000071.3(CBS):c.266T>A (p.Met89Lys) rs772450760
NM_000071.3(CBS):c.282G>C (p.Lys94Asn)
NM_000071.3(CBS):c.284T>C (p.Ile95Thr) rs1347662650
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.349A>T (p.Ser117Cys) rs1982753226
NM_000071.3(CBS):c.352G>T (p.Val118Leu)
NM_000071.3(CBS):c.359A>G (p.Asp120Gly) rs1982750491
NM_000071.3(CBS):c.381T>G (p.Ile127Met) rs199824647
NM_000071.3(CBS):c.389C>T (p.Ala130Val) rs1301672360
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.430G>C (p.Glu144Gln) rs121964966
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.452G>T (p.Gly151Val) rs2146388335
NM_000071.3(CBS):c.457G>A (p.Gly153Arg) rs745704046
NM_000071.3(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.3(CBS):c.474G>C (p.Ala158=) rs189362155
NM_000071.3(CBS):c.488A>G (p.Tyr163Cys) rs2146387804
NM_000071.3(CBS):c.491G>A (p.Arg164His)
NM_000071.3(CBS):c.493T>G (p.Cys165Gly) rs1234354755
NM_000071.3(CBS):c.496A>C (p.Ile166Leu)
NM_000071.3(CBS):c.49C>A (p.His17Asn) rs2146428735
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
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.531G>C (p.Lys177Asn) rs1064795022
NM_000071.3(CBS):c.532G>A (p.Val178Met) rs370843514
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.3(CBS):c.539T>C (p.Val180Ala) rs1555875010
NM_000071.3(CBS):c.542T>C (p.Leu181Pro)
NM_000071.3(CBS):c.544C>T (p.Arg182Trp)
NM_000071.3(CBS):c.548C>G (p.Ala183Gly)
NM_000071.3(CBS):c.554G>A (p.Gly185Glu)
NM_000071.3(CBS):c.56C>T (p.Ser19Leu)
NM_000071.3(CBS):c.580A>G (p.Asn194Asp) rs370089875
NM_000071.3(CBS):c.581A>G (p.Asn194Ser)
NM_000071.3(CBS):c.596C>G (p.Ser199Cys) rs1982554358
NM_000071.3(CBS):c.599C>G (p.Pro200Arg)
NM_000071.3(CBS):c.59G>A (p.Gly20Glu) rs1983457688
NM_000071.3(CBS):c.612G>T (p.Val204=) rs539670390
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.636C>G (p.Asn212Lys) rs2298758
NM_000071.3(CBS):c.638A>G (p.Glu213Gly)
NM_000071.3(CBS):c.650C>T (p.Ser217Phe) rs1555874874
NM_000071.3(CBS):c.664C>T (p.Gln222Ter) rs1568932262
NM_000071.3(CBS):c.667-10_667-7del rs376011228
NM_000071.3(CBS):c.667-14C>G rs1388184910
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.683A>G (p.Asn228Ser) rs1555874803
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.741G>C (p.Lys247Asn) rs746892057
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.752T>C (p.Leu251Pro) rs1176770868
NM_000071.3(CBS):c.753G>T (p.Leu251=) rs2146375662
NM_000071.3(CBS):c.754G>A (p.Val252Met)
NM_000071.3(CBS):c.75G>T (p.Lys25Asn) rs1484147890
NM_000071.3(CBS):c.761C>T (p.Ser254Leu)
NM_000071.3(CBS):c.763G>C (p.Val255Leu) rs1982371715
NM_000071.3(CBS):c.77G>C (p.Gly26Ala)
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.825C>T (p.Cys275=) rs764638041
NM_000071.3(CBS):c.829-2dup
NM_000071.3(CBS):c.829-8C>G rs750081937
NM_000071.3(CBS):c.838G>A (p.Val280Met) rs1982225866
NM_000071.3(CBS):c.844C>T (p.Pro282Ser) rs1057518515
NM_000071.3(CBS):c.846C>T (p.Pro282=)
NM_000071.3(CBS):c.857T>C (p.Ile286Thr) rs1060500681
NM_000071.3(CBS):c.862G>A (p.Ala288Thr) rs141502207
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.874_875delinsTT (p.Glu292Leu) rs1064795178
NM_000071.3(CBS):c.883C>G (p.Gln295Glu)
NM_000071.3(CBS):c.887C>G (p.Thr296Arg) rs562530775
NM_000071.3(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000071.3(CBS):c.904G>A (p.Glu302Lys) rs779270933
NM_000071.3(CBS):c.927C>A (p.Asp309Glu)
NM_000071.3(CBS):c.92G>A (p.Gly31Glu)
NM_000071.3(CBS):c.935C>A (p.Pro312His)
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.955-5C>A rs746366131
NM_000071.3(CBS):c.987G>C (p.Glu329Asp) rs765151853
NM_000071.3(CBS):c.992C>T (p.Ala331Val) rs777919630
NM_000071.3(CBS):c.996C>A (p.Phe332Leu)
NM_000071.3(CBS):c.[233C>G;306G>C]

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