ClinVar Miner

List of variants studied for Classic homocystinuria

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 369
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.1552+154T>C rs234701 0.95648
NM_000071.3(CBS):c.*565C>T rs706209 0.39516
NM_000071.3(CBS):c.*544T>C rs706208 0.39461
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.*123C>G rs1051319 0.21968
NM_000071.3(CBS):c.*299G>A rs12613 0.09051
NM_000071.3(CBS):c.316+130G>A rs73372393 0.02025
NM_000071.3(CBS):c.*383C>T rs73372352 0.01854
NM_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_000071.3(CBS):c.*81G>A rs115406358 0.01211
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_000071.3(CBS):c.*566G>A rs111969522 0.00793
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_000071.2(CBS):c.-160C>T rs112271970 0.00185
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.-136C>T rs543595103 0.00096
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.833T>C (p.Ile278Thr) rs5742905 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.394C>T (p.Arg132Cys) rs140002610 0.00038
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.1330G>A (p.Asp444Asn) rs28934891 0.00026
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.919G>A (p.Gly307Ser) rs121964962 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.1072G>A (p.Val358Met) rs148589243 0.00013
NM_000071.3(CBS):c.133C>T (p.Arg45Trp) rs201372812 0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 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.151A>C (p.Arg51=) rs754759237 0.00010
NM_000071.3(CBS):c.1632C>T (p.Ala544=) rs566810122 0.00010
NM_000071.3(CBS):c.362G>A (p.Arg121His) rs770095972 0.00010
NM_000071.3(CBS):c.700G>A (p.Asp234Asn) rs773734233 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.1224-2A>C rs375846341 0.00008
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.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.572C>T (p.Thr191Met) rs121964973 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.786G>A (p.Thr262=) rs551782391 0.00006
NM_000071.3(CBS):c.1074G>A (p.Val358=) rs570135008 0.00005
NM_000071.3(CBS):c.1468-6T>G rs771250766 0.00005
NM_000071.3(CBS):c.1494G>A (p.Arg498=) rs778800147 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.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000071.3(CBS):c.451G>A (p.Gly151Arg) rs373782713 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.1039G>A (p.Gly347Ser) rs771298943 0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) rs121964972 0.00003
NM_000071.3(CBS):c.1106G>A (p.Arg369His) rs11700812 0.00003
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp) rs769080151 0.00003
NM_000071.3(CBS):c.1146-7C>T rs376749931 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.1356G>A (p.Ala452=) rs776322450 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.374G>A (p.Arg125Gln) rs781444670 0.00003
NM_000071.3(CBS):c.435G>A (p.Pro145=) rs148782895 0.00003
NM_000071.3(CBS):c.537C>T (p.Asp179=) rs769712423 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.737-1G>C rs757428597 0.00003
NM_000071.3(CBS):c.775G>A (p.Gly259Ser) rs143124288 0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met) rs149119723 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.1006C>T (p.Arg336Cys) rs398123151 0.00002
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.325T>C (p.Cys109Arg) rs778220779 0.00002
NM_000071.3(CBS):c.361C>T (p.Arg121Cys) rs775992753 0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 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.689del (p.Leu230fs) rs775351239 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.959T>C (p.Val320Ala) rs781567152 0.00002
NM_000071.3(CBS):c.1007G>A (p.Arg336His) rs760417941 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.1109G>A (p.Cys370Tyr) rs757920190 0.00001
NM_000071.3(CBS):c.1111G>A (p.Val371Met) rs372010465 0.00001
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln) rs763036586 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.210-3C>T rs562656023 0.00001
NM_000071.3(CBS):c.28del (p.Val10fs) rs779250698 0.00001
NM_000071.3(CBS):c.373C>T (p.Arg125Trp) rs886057100 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.442G>A (p.Gly148Arg) rs755952006 0.00001
NM_000071.3(CBS):c.494G>A (p.Cys165Tyr) rs1347651454 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.687C>T (p.Pro229=) rs769298649 0.00001
NM_000071.3(CBS):c.68C>T (p.Ser23Leu) rs775785018 0.00001
NM_000071.3(CBS):c.736+5G>A rs750518463 0.00001
NM_000071.3(CBS):c.797G>A (p.Arg266Lys) rs121964969 0.00001
NM_000071.3(CBS):c.828+1G>A rs763290176 0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn) rs758447354 0.00001
NC_000021.8:g.(?_44473450)_(44492323_?)dup
NC_000021.8:g.(?_44473970)_(44492323_?)dup
NC_000021.8:g.(?_44478245)_(44485815_?)del
NC_000021.9:g.(?_43053340)_(43056907_?)del
NC_000021.9:g.(?_43053340)_(43076866_?)dup
NC_000021.9:g.(?_43058125)_(43065715_?)del
NC_000021.9:g.(?_43060421)_(43062415_?)dup
NM_000071.2(CBS):c.-242T>C rs1983687076
NM_000071.2(CBS):c.832_833ins68 (p.?)
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.3(CBS):c.*10C>A rs9978104
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.*592T>A rs866356348
NM_000071.3(CBS):c.*681A>G rs111413325
NM_000071.3(CBS):c.*80C>T rs141447394
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.1009_1012del (p.Arg336_Met337insTer) rs1555873925
NM_000071.3(CBS):c.1017C>T (p.Ile339=) rs773933333
NM_000071.3(CBS):c.1036T>C (p.Cys346Arg)
NM_000071.3(CBS):c.1039+2T>C
NM_000071.3(CBS):c.1040-2A>G
NM_000071.3(CBS):c.1061_1069del (p.Val354_Val356del) rs863223436
NM_000071.3(CBS):c.1071C>T (p.Ala357=) rs368206976
NM_000071.3(CBS):c.1075A>T (p.Lys359Ter)
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.1089G>A (p.Glu363=) rs1601343953
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.1126G>A (p.Asp376Asn) rs1170128038
NM_000071.3(CBS):c.1145+1G>A
NM_000071.3(CBS):c.1146-6C>T rs1981696579
NM_000071.3(CBS):c.1152G>C (p.Lys384Asn) rs1304669003
NM_000071.3(CBS):c.1179del (p.Lys394fs)
NM_000071.3(CBS):c.1195G>A (p.Glu399Lys) rs1485255027
NM_000071.3(CBS):c.1208C>T (p.Thr403Met) rs886042297
NM_000071.3(CBS):c.1210G>T (p.Glu404Ter) rs1981682654
NM_000071.3(CBS):c.1210_1212del (p.Glu404del) rs1555872822
NM_000071.3(CBS):c.1213AAG[1] (p.Lys406del) rs780555741
NM_000071.3(CBS):c.1218del (p.Lys406fs) rs794727083
NM_000071.3(CBS):c.1219_1223+8del rs1555872787
NM_000071.3(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.3(CBS):c.1223+1G>T rs1601339216
NM_000071.3(CBS):c.1223G>A (p.Trp408Ter) rs863223433
NM_000071.3(CBS):c.1227_1240del (p.Trp409fs)
NM_000071.3(CBS):c.1237C>T (p.Arg413Cys) rs767595472
NM_000071.3(CBS):c.1259C>A (p.Ser420Ter)
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.3(CBS):c.1288_1289del (p.Thr430fs)
NM_000071.3(CBS):c.1290C>T (p.Thr430=) rs746564702
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.1318G>T (p.Glu440Ter)
NM_000071.3(CBS):c.1321A>T (p.Lys441Ter) rs1057516645
NM_000071.3(CBS):c.1341del (p.Val448fs) rs2146340713
NM_000071.3(CBS):c.1357G>T (p.Gly453Trp) rs886057099
NM_000071.3(CBS):c.1358+15C>G rs186497436
NM_000071.3(CBS):c.1358+1G>A rs786204679
NM_000071.3(CBS):c.1358+2T>A
NM_000071.3(CBS):c.1358+2T>C rs866630296
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu) rs886039146
NM_000071.3(CBS):c.1359-1G>C rs865990681
NM_000071.3(CBS):c.1359-2A>T
NM_000071.3(CBS):c.1397C>A (p.Ser466Ter) rs121964971
NM_000071.3(CBS):c.1436T>C (p.Val479Ala) rs886038933
NM_000071.3(CBS):c.1453A>G (p.Lys485Glu) rs886057098
NM_000071.3(CBS):c.1456C>T (p.Gln486Ter)
NM_000071.3(CBS):c.1467+4C>T rs1981503515
NM_000071.3(CBS):c.1468-1G>A rs1057516895
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs) rs1555871188
NM_000071.3(CBS):c.153_165del (p.Arg51fs) rs1555876784
NM_000071.3(CBS):c.1545del (p.Ile516fs) rs1555871095
NM_000071.3(CBS):c.1552+1G>A rs1434118781
NM_000071.3(CBS):c.1553-1G>C rs1555869979
NM_000071.3(CBS):c.1553-2A>C rs760609383
NM_000071.3(CBS):c.1566del (p.Lys523fs) rs786204466
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter) rs1555869958
NM_000071.3(CBS):c.1580G>A (p.Arg527Gln) rs551198487
NM_000071.3(CBS):c.1603_1604del (p.Thr535fs) rs1555869934
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.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.18_36del (p.Glu9fs) rs1057516552
NM_000071.3(CBS):c.19del (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.209+1G>A rs751464024
NM_000071.3(CBS):c.209+1G>C rs751464024
NM_000071.3(CBS):c.209+1G>T
NM_000071.3(CBS):c.209+2T>C rs1555876755
NM_000071.3(CBS):c.209C>G (p.Pro70Arg)
NM_000071.3(CBS):c.209dup (p.Ala71fs)
NM_000071.3(CBS):c.210-1G>C rs2146414477
NM_000071.3(CBS):c.218_230del (p.Ser73fs)
NM_000071.3(CBS):c.233C>G (p.Pro78Arg) rs786204608
NM_000071.3(CBS):c.253G>A (p.Gly85Arg) rs863223435
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
NM_000071.3(CBS):c.262C>T (p.Pro88Ser) rs2146413970
NM_000071.3(CBS):c.284T>C (p.Ile95Thr) rs1347662650
NM_000071.3(CBS):c.302T>C (p.Leu101Pro) rs786204757
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+1G>A rs1057516256
NM_000071.3(CBS):c.316+586A>G
NM_000071.3(CBS):c.323del (p.Lys108fs)
NM_000071.3(CBS):c.346G>A (p.Gly116Arg) rs760214620
NM_000071.3(CBS):c.349A>T (p.Ser117Cys) rs1982753226
NM_000071.3(CBS):c.353_362del (p.Val118fs)
NM_000071.3(CBS):c.359A>G (p.Asp120Gly) rs1982750491
NM_000071.3(CBS):c.362G>T (p.Arg121Leu) rs770095972
NM_000071.3(CBS):c.371_374dup (p.Met126fs) rs755625628
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.402del (p.Thr135fs) rs1057517083
NM_000071.3(CBS):c.403_404delinsG (p.Thr135fs) rs1555875325
NM_000071.3(CBS):c.407T>C (p.Leu136Pro)
NM_000071.3(CBS):c.429C>G (p.Ile143Met) rs370167302
NM_000071.3(CBS):c.430G>C (p.Glu144Gln) rs121964966
NM_000071.3(CBS):c.430G>T (p.Glu144Ter) rs121964966
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000071.3(CBS):c.450C>T (p.Thr150=) rs750030593
NM_000071.3(CBS):c.451+1G>T rs1555875292
NM_000071.3(CBS):c.452-153_624dup rs1568932440
NM_000071.3(CBS):c.457G>A (p.Gly153Arg) rs745704046
NM_000071.3(CBS):c.467del (p.Leu156fs) rs767036273
NM_000071.3(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.3(CBS):c.481del (p.Arg161fs) rs2146387904
NM_000071.3(CBS):c.493T>G (p.Cys165Gly) rs1234354755
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.3(CBS):c.503_504del (p.Val168fs)
NM_000071.3(CBS):c.526G>A (p.Glu176Lys) rs762065361
NM_000071.3(CBS):c.529A>T (p.Lys177Ter) rs1982601982
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.580_599del (p.Asn194fs)
NM_000071.3(CBS):c.588del (p.Arg196fs)
NM_000071.3(CBS):c.606dup (p.His203fs)
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.636C>G (p.Asn212Lys) rs2298758
NM_000071.3(CBS):c.637G>T (p.Glu213Ter) rs758703098
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.667-14_667-7del rs764160782
NM_000071.3(CBS):c.667-1G>C rs1982513394
NM_000071.3(CBS):c.671G>T (p.Arg224Leu) rs761647392
NM_000071.3(CBS):c.676G>A (p.Ala226Thr) rs763835246
NM_000071.3(CBS):c.683A>G (p.Asn228Ser) rs1555874803
NM_000071.3(CBS):c.684C>A (p.Asn228Lys) rs1464223176
NM_000071.3(CBS):c.689T>A (p.Leu230Gln)
NM_000071.3(CBS):c.694C>G (p.His232Asp)
NM_000071.3(CBS):c.707_708delinsGGTG (p.Thr236fs) rs1057517435
NM_000071.3(CBS):c.710C>T (p.Ala237Val) rs1568931765
NM_000071.3(CBS):c.715G>T (p.Glu239Ter) rs1982493665
NM_000071.3(CBS):c.727C>T (p.Gln243Ter)
NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)
NM_000071.3(CBS):c.736_736+8del
NM_000071.3(CBS):c.738del rs766453711
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.747C>T (p.Asp249=) rs1601356424
NM_000071.3(CBS):c.750G>A (p.Met250Ile) rs863223431
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.763G>C (p.Val255Leu) rs1982371715
NM_000071.3(CBS):c.767G>T (p.Gly256Val)
NM_000071.3(CBS):c.796A>G (p.Arg266Gly)
NM_000071.3(CBS):c.808_810del (p.Glu270del) rs760710691
NM_000071.3(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000071.3(CBS):c.825C>T (p.Cys275=) rs764638041
NM_000071.3(CBS):c.829-1G>C rs1555874263
NM_000071.3(CBS):c.829-8C>G rs750081937
NM_000071.3(CBS):c.845_846insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC (p.Pro282_Glu283insSerArgTrpGlyPheCysTrpAlaTer) rs1555874223
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.887C>G (p.Thr296Arg) rs562530775
NM_000071.3(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)
NM_000071.3(CBS):c.903C>G (p.Tyr301Ter) rs746575551
NM_000071.3(CBS):c.904G>A (p.Glu302Lys) rs779270933
NM_000071.3(CBS):c.913G>A (p.Gly305Arg)
NM_000071.3(CBS):c.941T>C (p.Val314Ala) rs1438933819
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)
NM_000071.3(CBS):c.954+1G>A rs1057517373
NM_000071.3(CBS):c.954+2T>G rs1555874121
NM_000071.3(CBS):c.954G>A (p.Thr318=) rs776122644
NM_000071.3(CBS):c.95delinsATAAGAGACAGT (p.Ser32fs)
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000071.3(CBS):c.978del (p.Ser326fs)
NM_000071.3(CBS):c.98del (p.Pro33fs) rs2146428203
NM_000071.3(CBS):c.992C>A (p.Ala331Glu) rs777919630
NM_000071.3(CBS):c.992C>T (p.Ala331Val) rs777919630
NM_138694.4(PKHD1):c.5023del (p.Ala1675fs) rs797044607

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