ClinVar Miner

List of variants in gene CBS reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 297
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.1552+154T>C rs234701 0.95648
NM_000071.3(CBS):c.1467+255A>G rs234703 0.54417
NM_000071.3(CBS):c.-8-292G>C rs9980564 0.45776
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.1146-288T>C rs9325622 0.33776
NM_000071.3(CBS):c.829-265G>A rs2849727 0.33333
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.828+237C>T rs1788466 0.21046
NM_000071.3(CBS):c.828+262A>T rs61123777 0.17834
NM_000071.3(CBS):c.1358+264A>G rs6586283 0.17746
NM_000071.3(CBS):c.1145+268C>T rs234704 0.12142
NM_000071.3(CBS):c.1040-322T>C rs73906418 0.11170
NM_000071.3(CBS):c.*299G>A rs12613 0.09051
NM_000071.3(CBS):c.1468-36A>G rs1005585 0.06546
NM_000071.3(CBS):c.451+75G>A rs7279359 0.05794
NM_000071.3(CBS):c.1040-323G>A rs76942167 0.03721
NM_000071.3(CBS):c.954+33G>A rs59521601 0.03588
NM_000071.3(CBS):c.317-46G>C rs75873792 0.03396
NM_000071.3(CBS):c.-8-258G>A rs9980464 0.02673
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.316+130G>A rs73372393 0.02025
NM_000071.3(CBS):c.*383C>T rs73372352 0.01854
NM_000071.3(CBS):c.828+114C>T rs73372380 0.01753
NM_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_000071.3(CBS):c.736+281A>C rs115877954 0.01510
NM_000071.3(CBS):c.1467+191G>A rs111622470 0.01474
NM_000071.3(CBS):c.736+282T>G rs114681211 0.01429
NM_000071.3(CBS):c.955-108C>A rs113678154 0.01389
NM_000071.3(CBS):c.736+295G>A rs111590810 0.01371
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.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.1146-110C>A rs138222805 0.00562
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000071.3(CBS):c.-8-36G>A rs76178748 0.00467
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.210-45dup rs397805342 0.00190
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.1359-14C>T rs115185587 0.00137
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) rs150828989 0.00105
NM_000071.3(CBS):c.1223+12C>T rs116578198 0.00093
NM_000071.3(CBS):c.*27C>T rs55646248 0.00092
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.1257G>A (p.Leu419=) rs138432416 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.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.215A>T (p.Lys72Ile) rs192232907 0.00056
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.1380G>A (p.Thr460=) rs765134080 0.00038
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.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.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.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.146C>T (p.Pro49Leu) rs148865119 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.1223+5G>A rs372609349 0.00010
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.1632C>T (p.Ala544=) rs566810122 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.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.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.1315C>T (p.Arg439Trp) rs780508029 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.1626C>T (p.Phe542=) rs758818777 0.00006
NM_000071.3(CBS):c.452-12G>T rs780064320 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.612G>C (p.Val204=) rs539670390 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.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.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000071.3(CBS):c.342G>A (p.Ala114=) rs145338910 0.00004
NM_000071.3(CBS):c.451G>A (p.Gly151Arg) rs373782713 0.00004
NM_000071.3(CBS):c.501C>T (p.Ile167=) rs754246295 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.1039G>A (p.Gly347Ser) rs771298943 0.00003
NM_000071.3(CBS):c.1040-16G>A rs755940179 0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) rs121964972 0.00003
NM_000071.3(CBS):c.1083G>A (p.Ala361=) rs781323559 0.00003
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp) rs769080151 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.1280C>T (p.Pro427Leu) rs863223434 0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 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.1484C>T (p.Thr495Met) rs772344567 0.00003
NM_000071.3(CBS):c.152G>A (p.Arg51Lys) rs370983323 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.616G>A (p.Val206Met) rs369220569 0.00003
NM_000071.3(CBS):c.737-1G>C rs757428597 0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met) rs149119723 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.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000071.3(CBS):c.1038C>T (p.Cys346=) rs781584799 0.00002
NM_000071.3(CBS):c.1342G>A (p.Val448Met) rs865989946 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.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.532-13T>C rs757869040 0.00002
NM_000071.3(CBS):c.689del (p.Leu230fs) rs775351239 0.00002
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.1110C>T (p.Cys370=) rs752404089 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.1145+9C>T rs745997797 0.00001
NM_000071.3(CBS):c.1146-5C>T rs941685349 0.00001
NM_000071.3(CBS):c.1353G>C (p.Glu451Asp) rs367962613 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.1600G>A (p.Val534Ile) rs779569366 0.00001
NM_000071.3(CBS):c.34C>T (p.Pro12Ser) rs558259739 0.00001
NM_000071.3(CBS):c.401G>C (p.Gly134Ala) rs766958673 0.00001
NM_000071.3(CBS):c.442G>A (p.Gly148Arg) rs755952006 0.00001
NM_000071.3(CBS):c.447C>T (p.Asn149=) rs1457546374 0.00001
NM_000071.3(CBS):c.463G>A (p.Ala155Thr) rs1429138569 0.00001
NM_000071.3(CBS):c.675C>T (p.Asn225=) rs145303290 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+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.829-3C>T rs780624117 0.00001
NM_000071.3(CBS):c.954+4G>A rs770671402 0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn) rs758447354 0.00001
NC_000021.9:g.43053130C>T rs114892713
NC_000021.9:g.43053136C>G rs73372351
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC
NM_000071.3(CBS):c.*10C>A rs9978104
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.-8-159C>T rs73372396
NM_000071.3(CBS):c.-84-216A>G rs150773867
NM_000071.3(CBS):c.-84-52C>T rs9982921
NM_000071.3(CBS):c.-85+10G>C rs886057102
NM_000071.3(CBS):c.-85+78G>C rs191574093
NM_000071.3(CBS):c.-9+145A>G rs73906425
NM_000071.3(CBS):c.-9+14G>A rs927172505
NM_000071.3(CBS):c.-9+175T>C rs9983620
NM_000071.3(CBS):c.1005_1006delinsTT (p.Arg336Cys) rs1064793703
NM_000071.3(CBS):c.1009A>C (p.Met337Leu) rs372822486
NM_000071.3(CBS):c.1040-115G>C rs187967192
NM_000071.3(CBS):c.1051G>C (p.Gly351Arg) rs774926464
NM_000071.3(CBS):c.1087del (p.Glu363fs) rs1064794540
NM_000071.3(CBS):c.1114G>T (p.Val372Phe) rs775354680
NM_000071.3(CBS):c.112G>A (p.Ala38Thr) rs1064795253
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.1152G>C (p.Lys384Asn) rs1304669003
NM_000071.3(CBS):c.1208C>T (p.Thr403Met) rs886042297
NM_000071.3(CBS):c.1213AAG[1] (p.Lys406del) rs780555741
NM_000071.3(CBS):c.1223+123_1224-87del rs1416544817
NM_000071.3(CBS):c.1223+16C>G rs748900028
NM_000071.3(CBS):c.1223G>A (p.Trp408Ter) rs863223433
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.3(CBS):c.1310T>C (p.Ile437Thr) rs2146341072
NM_000071.3(CBS):c.1358+15C>A rs186497436
NM_000071.3(CBS):c.1358+15C>G rs186497436
NM_000071.3(CBS):c.1359-219C>T rs34758144
NM_000071.3(CBS):c.1467+127_1467+157del rs1233162829
NM_000071.3(CBS):c.1468-132A>C rs77459968
NM_000071.3(CBS):c.1468-219G>A rs143698976
NM_000071.3(CBS):c.1468-98G>A rs1005584
NM_000071.3(CBS):c.1500G>A (p.Ser500=) rs1057522901
NM_000071.3(CBS):c.1513A>G (p.Met505Val) rs2146328317
NM_000071.3(CBS):c.1539C>G (p.His513Gln) rs187828882
NM_000071.3(CBS):c.153_165del (p.Arg51fs) rs1555876784
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.1553-147del rs372427824
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.1579C>T (p.Arg527Trp) rs1455031864
NM_000071.3(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.209+103del rs147833940
NM_000071.3(CBS):c.209+1G>A rs751464024
NM_000071.3(CBS):c.210-44_210-43dup rs5844149
NM_000071.3(CBS):c.210-44dup rs5844149
NM_000071.3(CBS):c.228C>T (p.Ile76=) rs1555876151
NM_000071.3(CBS):c.253G>A (p.Gly85Arg) rs863223435
NM_000071.3(CBS):c.316+224C>A rs234715
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.340G>A (p.Ala114Thr) rs377708532
NM_000071.3(CBS):c.348G>T (p.Gly116=) rs902976689
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.451+142G>A rs2298760
NM_000071.3(CBS):c.451+197del rs144404003
NM_000071.3(CBS):c.451+20G>A rs1057520922
NM_000071.3(CBS):c.451+82C>A rs234707
NM_000071.3(CBS):c.452G>T (p.Gly151Val) rs2146388335
NM_000071.3(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.3(CBS):c.488A>G (p.Tyr163Cys) rs2146387804
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.3(CBS):c.531+1G>A
NM_000071.3(CBS):c.531G>C (p.Lys177Asn) rs1064795022
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.3(CBS):c.572C>A (p.Thr191Lys) rs121964973
NM_000071.3(CBS):c.580A>G (p.Asn194Asp) rs370089875
NM_000071.3(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.3(CBS):c.625C>A (p.Arg209=) rs137939628
NM_000071.3(CBS):c.636C>G (p.Asn212Lys) rs2298758
NM_000071.3(CBS):c.667-10_667-7del rs376011228
NM_000071.3(CBS):c.667-14_667-7del rs764160782
NM_000071.3(CBS):c.669C>T (p.Tyr223=) rs1366764579
NM_000071.3(CBS):c.676G>A (p.Ala226Thr) rs763835246
NM_000071.3(CBS):c.736+2T>G rs863223430
NM_000071.3(CBS):c.737-174T>C rs78789995
NM_000071.3(CBS):c.737-225C>T rs138347850
NM_000071.3(CBS):c.750G>A (p.Met250Ile) rs863223431
NM_000071.3(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000071.3(CBS):c.828+238G>A rs234705
NM_000071.3(CBS):c.844C>T (p.Pro282Ser) rs1057518515
NM_000071.3(CBS):c.874_875delinsTT (p.Glu292Leu) rs1064795178
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.969G>A (p.Trp323Ter) rs863223432
NM_000071.3(CBS):c.990G>A (p.Glu330=) rs1373353287
NM_000071.3(CBS):c.992C>A (p.Ala331Glu) rs777919630
NM_001178008.3(CBS):c.-85+195A>C rs184089557

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