ClinVar Miner

List of variants in gene SDCCAG8 reported as uncertain significance for Bardet-Biedl syndrome 16

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 301
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HGVS dbSNP gnomAD frequency
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966 0.00088
NM_006642.5(SDCCAG8):c.-130C>A rs547776191 0.00072
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431 0.00069
NM_006642.5(SDCCAG8):c.1474-6C>T rs376414138 0.00068
NM_006642.5(SDCCAG8):c.348C>T (p.His116=) rs143226730 0.00050
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920 0.00050
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu) rs146474568 0.00038
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=) rs138449445 0.00034
NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile) rs6672843 0.00031
NM_006642.5(SDCCAG8):c.-121C>T rs768318766 0.00030
NM_006642.5(SDCCAG8):c.1276A>G (p.Thr426Ala) rs201580075 0.00029
NM_006642.5(SDCCAG8):c.1068+3A>G rs201388041 0.00024
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu) rs199919586 0.00023
NM_006642.5(SDCCAG8):c.947T>C (p.Met316Thr) rs200461035 0.00020
NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His) rs200657425 0.00019
NM_006642.5(SDCCAG8):c.1429G>C (p.Glu477Gln) rs556191085 0.00013
NM_006642.5(SDCCAG8):c.1750G>A (p.Glu584Lys) rs150961792 0.00009
NM_006642.5(SDCCAG8):c.244C>T (p.Arg82Cys) rs143447584 0.00009
NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser) rs200294385 0.00009
NM_006642.5(SDCCAG8):c.1123C>A (p.Leu375Ile) rs745634199 0.00008
NM_006642.5(SDCCAG8):c.1193C>T (p.Thr398Met) rs79435766 0.00008
NM_006642.5(SDCCAG8):c.160A>T (p.Thr54Ser) rs761616528 0.00008
NM_006642.5(SDCCAG8):c.220+3G>A rs370361491 0.00008
NM_006642.5(SDCCAG8):c.430T>G (p.Ser144Ala) rs749010399 0.00008
NM_006642.5(SDCCAG8):c.832C>T (p.Arg278Cys) rs769004589 0.00008
NM_006642.5(SDCCAG8):c.1115C>T (p.Ala372Val) rs74701277 0.00007
NM_006642.5(SDCCAG8):c.245G>A (p.Arg82His) rs577345357 0.00007
NM_006642.5(SDCCAG8):c.784G>C (p.Glu262Gln) rs149038104 0.00007
NM_006642.5(SDCCAG8):c.1018G>T (p.Val340Leu) rs1308863502 0.00006
NM_006642.5(SDCCAG8):c.1022A>C (p.Lys341Thr) rs145984257 0.00006
NM_006642.5(SDCCAG8):c.1158G>C (p.Arg386Ser) rs200987365 0.00005
NM_006642.5(SDCCAG8):c.1513C>G (p.Gln505Glu) rs980791573 0.00005
NM_006642.5(SDCCAG8):c.233A>G (p.Lys78Arg) rs750977682 0.00005
NM_006642.5(SDCCAG8):c.280T>A (p.Ser94Thr) rs776810375 0.00005
NM_006642.5(SDCCAG8):c.283A>G (p.Arg95Gly) rs377564587 0.00005
NM_006642.5(SDCCAG8):c.968G>A (p.Arg323Lys) rs576672580 0.00005
NM_006642.5(SDCCAG8):c.-131T>C rs886046327 0.00004
NM_006642.5(SDCCAG8):c.1279A>C (p.Lys427Gln) rs375037219 0.00004
NM_006642.5(SDCCAG8):c.1492A>G (p.Ile498Val) rs765529431 0.00004
NM_006642.5(SDCCAG8):c.415T>C (p.Cys139Arg) rs769333887 0.00004
NM_006642.5(SDCCAG8):c.420G>T (p.Lys140Asn) rs763284045 0.00004
NM_006642.5(SDCCAG8):c.1027G>A (p.Val343Ile) rs760942783 0.00003
NM_006642.5(SDCCAG8):c.118G>A (p.Asp40Asn) rs202114636 0.00003
NM_006642.5(SDCCAG8):c.1373G>A (p.Arg458His) rs748784645 0.00003
NM_006642.5(SDCCAG8):c.1375T>C (p.Tyr459His) rs1182496392 0.00003
NM_006642.5(SDCCAG8):c.1498C>A (p.Leu500Met) rs750763148 0.00003
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys) rs190020173 0.00003
NM_006642.5(SDCCAG8):c.1691A>G (p.Glu564Gly) rs762947754 0.00003
NM_006642.5(SDCCAG8):c.1892C>T (p.Thr631Ile) rs565662622 0.00003
NM_006642.5(SDCCAG8):c.1945T>C (p.Cys649Arg) rs371805116 0.00003
NM_006642.5(SDCCAG8):c.220+17A>G rs772231725 0.00003
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278 0.00003
NM_006642.5(SDCCAG8):c.64C>T (p.Arg22Trp) rs753770267 0.00003
NM_006642.5(SDCCAG8):c.66G>T (p.Arg22=) rs764668676 0.00003
NM_006642.5(SDCCAG8):c.676-4A>G rs377256554 0.00003
NM_006642.5(SDCCAG8):c.842G>A (p.Gly281Asp) rs765751496 0.00003
NM_006642.5(SDCCAG8):c.865C>T (p.His289Tyr) rs550235853 0.00003
NM_006642.5(SDCCAG8):c.866A>G (p.His289Arg) rs147807589 0.00003
NM_006642.5(SDCCAG8):c.1121G>A (p.Arg374Gln) rs553797432 0.00002
NM_006642.5(SDCCAG8):c.1352C>T (p.Thr451Ile) rs762653933 0.00002
NM_006642.5(SDCCAG8):c.14C>T (p.Pro5Leu) rs747363592 0.00002
NM_006642.5(SDCCAG8):c.1643G>C (p.Ser548Thr) rs775898129 0.00002
NM_006642.5(SDCCAG8):c.1913T>C (p.Leu638Ser) rs752896885 0.00002
NM_006642.5(SDCCAG8):c.191C>T (p.Ala64Val) rs573336252 0.00002
NM_006642.5(SDCCAG8):c.1963G>A (p.Val655Ile) rs776040834 0.00002
NM_006642.5(SDCCAG8):c.472G>A (p.Glu158Lys) rs367590060 0.00002
NM_006642.5(SDCCAG8):c.661G>A (p.Glu221Lys) rs373999051 0.00002
NM_006642.5(SDCCAG8):c.741-7T>C rs755931555 0.00002
NM_006642.5(SDCCAG8):c.761A>G (p.Gln254Arg) rs958074911 0.00002
NM_006642.5(SDCCAG8):c.918A>C (p.Glu306Asp) rs770183847 0.00002
NM_006642.5(SDCCAG8):c.-106G>T rs886046328 0.00001
NM_006642.5(SDCCAG8):c.1053T>C (p.Asn351=) rs777038486 0.00001
NM_006642.5(SDCCAG8):c.1064C>A (p.Thr355Asn) rs199524638 0.00001
NM_006642.5(SDCCAG8):c.1079A>C (p.Gln360Pro) rs1281285070 0.00001
NM_006642.5(SDCCAG8):c.1099G>A (p.Glu367Lys) rs780671703 0.00001
NM_006642.5(SDCCAG8):c.115G>A (p.Gly39Ser) rs756642876 0.00001
NM_006642.5(SDCCAG8):c.1163T>A (p.Ile388Asn) rs377237088 0.00001
NM_006642.5(SDCCAG8):c.1175T>C (p.Met392Thr) rs1041307493 0.00001
NM_006642.5(SDCCAG8):c.1176G>A (p.Met392Ile) rs1367586020 0.00001
NM_006642.5(SDCCAG8):c.1210A>G (p.Met404Val) rs1298150302 0.00001
NM_006642.5(SDCCAG8):c.1221+4C>G rs527785150 0.00001
NM_006642.5(SDCCAG8):c.1222A>G (p.Met408Val) rs752002252 0.00001
NM_006642.5(SDCCAG8):c.1244T>C (p.Ile415Thr) rs753213107 0.00001
NM_006642.5(SDCCAG8):c.1247C>T (p.Ala416Val) rs1345199314 0.00001
NM_006642.5(SDCCAG8):c.1272G>C (p.Lys424Asn) rs777728424 0.00001
NM_006642.5(SDCCAG8):c.1274T>C (p.Val425Ala) rs779777531 0.00001
NM_006642.5(SDCCAG8):c.1283A>G (p.Glu428Gly) rs1364309751 0.00001
NM_006642.5(SDCCAG8):c.1287G>T (p.Lys429Asn) rs781182231 0.00001
NM_006642.5(SDCCAG8):c.1297A>G (p.Ile433Val) rs769796315 0.00001
NM_006642.5(SDCCAG8):c.1336C>T (p.Arg446Trp) rs769286565 0.00001
NM_006642.5(SDCCAG8):c.1337G>A (p.Arg446Gln) rs772853104 0.00001
NM_006642.5(SDCCAG8):c.1343T>C (p.Met448Thr) rs1015302300 0.00001
NM_006642.5(SDCCAG8):c.1358T>C (p.Val453Ala) rs777367811 0.00001
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=) rs759125934 0.00001
NM_006642.5(SDCCAG8):c.1423C>T (p.His475Tyr) rs190941099 0.00001
NM_006642.5(SDCCAG8):c.1427G>A (p.Arg476Lys) rs761873846 0.00001
NM_006642.5(SDCCAG8):c.1427G>C (p.Arg476Thr) rs761873846 0.00001
NM_006642.5(SDCCAG8):c.1454A>G (p.Asp485Gly) rs1273880712 0.00001
NM_006642.5(SDCCAG8):c.1465A>G (p.Lys489Glu) rs1573445816 0.00001
NM_006642.5(SDCCAG8):c.1488G>T (p.Leu496Phe) rs1432354431 0.00001
NM_006642.5(SDCCAG8):c.1507A>G (p.Ser503Gly) rs778441055 0.00001
NM_006642.5(SDCCAG8):c.1517A>G (p.His506Arg) rs745351109 0.00001
NM_006642.5(SDCCAG8):c.1552A>G (p.Arg518Gly) rs770306576 0.00001
NM_006642.5(SDCCAG8):c.1574C>A (p.Thr525Lys) rs999154575 0.00001
NM_006642.5(SDCCAG8):c.1642A>C (p.Ser548Arg) rs1388276184 0.00001
NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln) rs750265815 0.00001
NM_006642.5(SDCCAG8):c.1699C>G (p.Leu567Val) rs750647231 0.00001
NM_006642.5(SDCCAG8):c.1727C>T (p.Ala576Val) rs766677544 0.00001
NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro) rs771493123 0.00001
NM_006642.5(SDCCAG8):c.1756T>A (p.Tyr586Asn) rs542690685 0.00001
NM_006642.5(SDCCAG8):c.1768A>G (p.Thr590Ala) rs780281311 0.00001
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317 0.00001
NM_006642.5(SDCCAG8):c.1790C>A (p.Thr597Lys) rs372641187 0.00001
NM_006642.5(SDCCAG8):c.1823A>G (p.Lys608Arg) rs760154232 0.00001
NM_006642.5(SDCCAG8):c.1854A>G (p.Arg618=) rs771976516 0.00001
NM_006642.5(SDCCAG8):c.1888T>C (p.Tyr630His) rs138187640 0.00001
NM_006642.5(SDCCAG8):c.1931A>G (p.Glu644Gly) rs1441286815 0.00001
NM_006642.5(SDCCAG8):c.1955A>G (p.His652Arg) rs746505992 0.00001
NM_006642.5(SDCCAG8):c.1964T>A (p.Val655Glu) rs1415587153 0.00001
NM_006642.5(SDCCAG8):c.1973C>T (p.Thr658Met) rs1057515530 0.00001
NM_006642.5(SDCCAG8):c.1984A>G (p.Arg662Gly) rs2081354029 0.00001
NM_006642.5(SDCCAG8):c.263A>G (p.Glu88Gly) rs770685116 0.00001
NM_006642.5(SDCCAG8):c.307-3T>C rs901028030 0.00001
NM_006642.5(SDCCAG8):c.349G>A (p.Asp117Asn) rs913322544 0.00001
NM_006642.5(SDCCAG8):c.359A>G (p.His120Arg) rs778785206 0.00001
NM_006642.5(SDCCAG8):c.364A>G (p.Ile122Val) rs377473337 0.00001
NM_006642.5(SDCCAG8):c.365T>C (p.Ile122Thr) rs758051187 0.00001
NM_006642.5(SDCCAG8):c.37A>T (p.Ile13Phe) rs763172123 0.00001
NM_006642.5(SDCCAG8):c.404A>T (p.Glu135Val) rs747774826 0.00001
NM_006642.5(SDCCAG8):c.420+5G>A rs771328242 0.00001
NM_006642.5(SDCCAG8):c.542C>T (p.Ala181Val) rs372403021 0.00001
NM_006642.5(SDCCAG8):c.546C>T (p.Ser182=) rs564399164 0.00001
NM_006642.5(SDCCAG8):c.553A>G (p.Met185Val) rs752567022 0.00001
NM_006642.5(SDCCAG8):c.560A>G (p.Asn187Ser) rs185077992 0.00001
NM_006642.5(SDCCAG8):c.574A>G (p.Thr192Ala) rs1003029505 0.00001
NM_006642.5(SDCCAG8):c.646G>A (p.Ala216Thr) rs753823148 0.00001
NM_006642.5(SDCCAG8):c.676-3T>C rs559252091 0.00001
NM_006642.5(SDCCAG8):c.682C>G (p.Leu228Val) rs768424996 0.00001
NM_006642.5(SDCCAG8):c.695A>C (p.Tyr232Ser) rs747968552 0.00001
NM_006642.5(SDCCAG8):c.707G>A (p.Cys236Tyr) rs1299404653 0.00001
NM_006642.5(SDCCAG8):c.718G>A (p.Glu240Lys) rs774139674 0.00001
NM_006642.5(SDCCAG8):c.929+6T>C rs949556945 0.00001
NM_006642.5(SDCCAG8):c.950C>T (p.Ser317Phe) rs368258515 0.00001
NC_000001.10:g.(?_243437825)_(243437978_?)del
NC_000001.10:g.(?_243456373)_(243456541_?)del
NC_000001.10:g.(?_243493822)_(243494014_?)dup
NC_000001.10:g.(?_243504321)_(243507653_?)del
NC_000001.10:g.(?_243507497)_(243507653_?)del
NC_000001.10:g.(?_243578984)_(243589880_?)del
NC_000001.10:g.(?_243589709)_(243589880_?)del
NM_006642.5(SDCCAG8):c.-98C>T rs886046329
NM_006642.5(SDCCAG8):c.1003A>C (p.Ser335Arg)
NM_006642.5(SDCCAG8):c.1010A>G (p.Tyr337Cys) rs771991355
NM_006642.5(SDCCAG8):c.103G>T (p.Ala35Ser) rs781638035
NM_006642.5(SDCCAG8):c.104C>A (p.Ala35Asp)
NM_006642.5(SDCCAG8):c.1062A>C (p.Lys354Asn) rs2547897837
NM_006642.5(SDCCAG8):c.1069-3C>T rs2527970154
NM_006642.5(SDCCAG8):c.1082G>A (p.Cys361Tyr)
NM_006642.5(SDCCAG8):c.1109G>T (p.Arg370Met) rs1471866292
NM_006642.5(SDCCAG8):c.1117G>A (p.Glu373Lys) rs1161158288
NM_006642.5(SDCCAG8):c.1151A>G (p.Glu384Gly) rs2074516888
NM_006642.5(SDCCAG8):c.1156A>G (p.Arg386Gly)
NM_006642.5(SDCCAG8):c.116G>A (p.Gly39Asp)
NM_006642.5(SDCCAG8):c.1171G>A (p.Asp391Asn) rs2149349477
NM_006642.5(SDCCAG8):c.1178T>A (p.Met393Lys) rs2527970878
NM_006642.5(SDCCAG8):c.117C>A (p.Gly39=) rs778405068
NM_006642.5(SDCCAG8):c.1186G>A (p.Glu396Lys) rs1428852073
NM_006642.5(SDCCAG8):c.118G>T (p.Asp40Tyr)
NM_006642.5(SDCCAG8):c.11C>G (p.Ser4Cys) rs756729603
NM_006642.5(SDCCAG8):c.122T>C (p.Val41Ala) rs2067972241
NM_006642.5(SDCCAG8):c.1234T>A (p.Ser412Thr) rs2075355899
NM_006642.5(SDCCAG8):c.124A>G (p.Thr42Ala) rs2547828184
NM_006642.5(SDCCAG8):c.1273G>A (p.Val425Ile) rs370072966
NM_006642.5(SDCCAG8):c.1273G>T (p.Val425Phe) rs370072966
NM_006642.5(SDCCAG8):c.127A>G (p.Ile43Val)
NM_006642.5(SDCCAG8):c.1301A>T (p.Asn434Ile) rs2528030001
NM_006642.5(SDCCAG8):c.1306C>G (p.Leu436Val) rs2528030026
NM_006642.5(SDCCAG8):c.1309G>C (p.Glu437Gln) rs1558321444
NM_006642.5(SDCCAG8):c.1343T>G (p.Met448Arg) rs1015302300
NM_006642.5(SDCCAG8):c.1346A>G (p.Asp449Gly)
NM_006642.5(SDCCAG8):c.1356+4C>G
NM_006642.5(SDCCAG8):c.1356G>A (p.Lys452=) rs1057515483
NM_006642.5(SDCCAG8):c.1357-12A>T rs754786846
NM_006642.5(SDCCAG8):c.1360T>C (p.Cys454Arg) rs1179852986
NM_006642.5(SDCCAG8):c.136G>C (p.Asp46His) rs2067972892
NM_006642.5(SDCCAG8):c.1370T>A (p.Met457Lys) rs1250974056
NM_006642.5(SDCCAG8):c.1376A>C (p.Tyr459Ser)
NM_006642.5(SDCCAG8):c.1397T>G (p.Met466Arg) rs2147791053
NM_006642.5(SDCCAG8):c.1411G>A (p.Ala471Thr) rs775752533
NM_006642.5(SDCCAG8):c.1415A>T (p.Glu472Val)
NM_006642.5(SDCCAG8):c.1420G>A (p.Glu474Lys) rs2075566223
NM_006642.5(SDCCAG8):c.1421A>C (p.Glu474Ala) rs2528047889
NM_006642.5(SDCCAG8):c.1426A>G (p.Arg476Gly) rs2147791136
NM_006642.5(SDCCAG8):c.1439C>A (p.Ala480Glu) rs750599032
NM_006642.5(SDCCAG8):c.1452G>C (p.Arg484Ser) rs1056998767
NM_006642.5(SDCCAG8):c.1468G>A (p.Asp490Asn)
NM_006642.5(SDCCAG8):c.1519T>G (p.Leu507Val) rs1558382581
NM_006642.5(SDCCAG8):c.152C>T (p.Ser51Phe) rs2067973932
NM_006642.5(SDCCAG8):c.1559A>G (p.Glu520Gly)
NM_006642.5(SDCCAG8):c.1562G>A (p.Cys521Tyr)
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys) rs753709808
NM_006642.5(SDCCAG8):c.1606C>T (p.His536Tyr)
NM_006642.5(SDCCAG8):c.1610T>G (p.Leu537Arg) rs1032332223
NM_006642.5(SDCCAG8):c.1616+20T>G
NM_006642.5(SDCCAG8):c.1646T>C (p.Phe549Ser) rs2080530513
NM_006642.5(SDCCAG8):c.1695G>A (p.Gln565=) rs2080533501
NM_006642.5(SDCCAG8):c.1696G>A (p.Glu566Lys) rs1483986069
NM_006642.5(SDCCAG8):c.169G>A (p.Gly57Arg) rs2067975157
NM_006642.5(SDCCAG8):c.16G>C (p.Glu6Gln) rs1201744229
NM_006642.5(SDCCAG8):c.1745-7T>A rs532763241
NM_006642.5(SDCCAG8):c.1762T>G (p.Leu588Val)
NM_006642.5(SDCCAG8):c.1764G>A (p.Leu588=) rs758498800
NM_006642.5(SDCCAG8):c.1769C>A (p.Thr590Asn) rs2148018533
NM_006642.5(SDCCAG8):c.1807T>C (p.Cys603Arg)
NM_006642.5(SDCCAG8):c.181G>A (p.Ala61Thr) rs149928402
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser) rs149928402
NM_006642.5(SDCCAG8):c.1828C>G (p.Leu610Val)
NM_006642.5(SDCCAG8):c.182C>A (p.Ala61Asp) rs1466620787
NM_006642.5(SDCCAG8):c.1837A>G (p.Ile613Val) rs2148018705
NM_006642.5(SDCCAG8):c.1844A>G (p.Gln615Arg)
NM_006642.5(SDCCAG8):c.1853+1G>A rs1573930690
NM_006642.5(SDCCAG8):c.1886G>T (p.Arg629Met) rs548855151
NM_006642.5(SDCCAG8):c.188C>T (p.Thr63Ile)
NM_006642.5(SDCCAG8):c.1930G>C (p.Glu644Gln)
NM_006642.5(SDCCAG8):c.1933T>A (p.Leu645Met) rs181033600
NM_006642.5(SDCCAG8):c.1944G>C (p.Gln648His) rs2148043381
NM_006642.5(SDCCAG8):c.1946G>A (p.Cys649Tyr)
NM_006642.5(SDCCAG8):c.1966C>A (p.His656Asn) rs1262692904
NM_006642.5(SDCCAG8):c.1967A>G (p.His656Arg) rs761503701
NM_006642.5(SDCCAG8):c.1985G>A (p.Arg662Lys) rs2081354187
NM_006642.5(SDCCAG8):c.199G>A (p.Glu67Lys)
NM_006642.5(SDCCAG8):c.19A>C (p.Asn7His)
NM_006642.5(SDCCAG8):c.209A>C (p.Gln70Pro) rs2067978372
NM_006642.5(SDCCAG8):c.221-3T>C
NM_006642.5(SDCCAG8):c.229C>T (p.Leu77Phe)
NM_006642.5(SDCCAG8):c.22T>C (p.Ser8Pro) rs1193390013
NM_006642.5(SDCCAG8):c.238T>G (p.Leu80Val)
NM_006642.5(SDCCAG8):c.244C>A (p.Arg82Ser) rs143447584
NM_006642.5(SDCCAG8):c.245G>T (p.Arg82Leu) rs577345357
NM_006642.5(SDCCAG8):c.264A>C (p.Glu88Asp)
NM_006642.5(SDCCAG8):c.277C>T (p.Pro93Ser) rs1284369812
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_006642.5(SDCCAG8):c.284GAA[2] (p.Arg97del) rs751190536
NM_006642.5(SDCCAG8):c.306+11A>G rs781456866
NM_006642.5(SDCCAG8):c.306+4A>G
NM_006642.5(SDCCAG8):c.307-5C>T rs2149268621
NM_006642.5(SDCCAG8):c.309G>T (p.Arg103Ser) rs1401145435
NM_006642.5(SDCCAG8):c.31G>C (p.Glu11Gln) rs773442925
NM_006642.5(SDCCAG8):c.331A>G (p.Asn111Asp) rs759634630
NM_006642.5(SDCCAG8):c.359A>T (p.His120Leu) rs778785206
NM_006642.5(SDCCAG8):c.374A>C (p.Gln125Pro) rs2149268706
NM_006642.5(SDCCAG8):c.383A>G (p.Tyr128Cys)
NM_006642.5(SDCCAG8):c.398A>G (p.Glu133Gly) rs2547836441
NM_006642.5(SDCCAG8):c.416G>T (p.Cys139Phe) rs773522256
NM_006642.5(SDCCAG8):c.420+12A>G rs2068379887
NM_006642.5(SDCCAG8):c.426A>T (p.Glu142Asp) rs755711791
NM_006642.5(SDCCAG8):c.427C>G (p.Leu143Val) rs371179612
NM_006642.5(SDCCAG8):c.431C>T (p.Ser144Phe) rs1453249734
NM_006642.5(SDCCAG8):c.439A>G (p.Lys147Glu) rs2069609399
NM_006642.5(SDCCAG8):c.43G>A (p.Gly15Arg) rs2547797729
NM_006642.5(SDCCAG8):c.452A>G (p.Gln151Arg) rs2547851164
NM_006642.5(SDCCAG8):c.48G>T (p.Gln16His) rs1398602761
NM_006642.5(SDCCAG8):c.497C>G (p.Ser166Cys)
NM_006642.5(SDCCAG8):c.547-3T>C rs1172254078
NM_006642.5(SDCCAG8):c.557A>C (p.His186Pro) rs144254594
NM_006642.5(SDCCAG8):c.557A>G (p.His186Arg) rs144254594
NM_006642.5(SDCCAG8):c.578G>C (p.Gly193Ala) rs750128305
NM_006642.5(SDCCAG8):c.590G>C (p.Gly197Ala)
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.613C>T (p.Pro205Ser)
NM_006642.5(SDCCAG8):c.61C>T (p.Leu21Phe)
NM_006642.5(SDCCAG8):c.620C>T (p.Ser207Phe) rs1182767716
NM_006642.5(SDCCAG8):c.629A>G (p.Asn210Ser)
NM_006642.5(SDCCAG8):c.62_64dup (p.Leu21_Arg22insLeu) rs2547797873
NM_006642.5(SDCCAG8):c.655G>T (p.Ala219Ser) rs2149295739
NM_006642.5(SDCCAG8):c.675+5G>C rs968117633
NM_006642.5(SDCCAG8):c.683T>C (p.Leu228Pro) rs776422346
NM_006642.5(SDCCAG8):c.68A>G (p.Glu23Gly) rs2067967236
NM_006642.5(SDCCAG8):c.71A>G (p.His24Arg) rs2547827986
NM_006642.5(SDCCAG8):c.721T>C (p.Ser241Pro) rs759278534
NM_006642.5(SDCCAG8):c.722C>A (p.Ser241Tyr)
NM_006642.5(SDCCAG8):c.740+3A>G
NM_006642.5(SDCCAG8):c.741-5T>A
NM_006642.5(SDCCAG8):c.745G>T (p.Asp249Tyr) rs757829748
NM_006642.5(SDCCAG8):c.749T>C (p.Leu250Ser) rs1357310997
NM_006642.5(SDCCAG8):c.760C>G (p.Gln254Glu) rs2149319564
NM_006642.5(SDCCAG8):c.766A>C (p.Thr256Pro) rs2072330865
NM_006642.5(SDCCAG8):c.76A>G (p.Ser26Gly) rs1179385721
NM_006642.5(SDCCAG8):c.799A>T (p.Lys267Ter) rs1558269718
NM_006642.5(SDCCAG8):c.815C>T (p.Ala272Val) rs760305679
NM_006642.5(SDCCAG8):c.83G>A (p.Ser28Asn) rs2149262996
NM_006642.5(SDCCAG8):c.895A>G (p.Asn299Asp)
NM_006642.5(SDCCAG8):c.913A>T (p.Ile305Phe)
NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys) rs777002036
NM_006642.5(SDCCAG8):c.921A>T (p.Arg307Ser) rs2072347543
NM_006642.5(SDCCAG8):c.952G>C (p.Ala318Pro) rs2073277628
NM_006642.5(SDCCAG8):c.953C>T (p.Ala318Val) rs2073277913
NM_006642.5(SDCCAG8):c.954A>C (p.Ala318=) rs750272621
NM_006642.5(SDCCAG8):c.966_977dup (p.Arg323_Leu326dup) rs1365929568
NM_006642.5(SDCCAG8):c.986C>G (p.Thr329Arg) rs35859404
NM_006642.5(SDCCAG8):c.998A>T (p.Glu333Val) rs2149331580

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