ClinVar Miner

List of variants reported as uncertain significance for Senior-Loken syndrome 7; Bardet-Biedl syndrome 16

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 304
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966 0.00094
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920 0.00046
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu) rs146474568 0.00038
NM_006642.5(SDCCAG8):c.1276A>G (p.Thr426Ala) rs201580075 0.00029
NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile) rs6672843 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 0.00019
NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His) rs200657425 0.00018
NM_006642.5(SDCCAG8):c.1429G>C (p.Glu477Gln) rs556191085 0.00013
NM_006642.5(SDCCAG8):c.1750G>A (p.Glu584Lys) rs150961792 0.00011
NM_006642.5(SDCCAG8):c.1552A>G (p.Arg518Gly) rs770306576 0.00010
NM_006642.5(SDCCAG8):c.160A>T (p.Thr54Ser) rs761616528 0.00009
NM_006642.5(SDCCAG8):c.220+3G>A rs370361491 0.00009
NM_006642.5(SDCCAG8):c.244C>T (p.Arg82Cys) rs143447584 0.00009
NM_006642.5(SDCCAG8):c.784G>C (p.Glu262Gln) rs149038104 0.00009
NM_006642.5(SDCCAG8):c.832C>T (p.Arg278Cys) rs769004589 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.430T>G (p.Ser144Ala) rs749010399 0.00008
NM_006642.5(SDCCAG8):c.1115C>T (p.Ala372Val) rs74701277 0.00007
NM_006642.5(SDCCAG8):c.1513C>G (p.Gln505Glu) rs980791573 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.1279A>C (p.Lys427Gln) rs375037219 0.00006
NM_006642.5(SDCCAG8):c.1790C>A (p.Thr597Lys) rs372641187 0.00006
NM_006642.5(SDCCAG8):c.233A>G (p.Lys78Arg) rs750977682 0.00006
NM_006642.5(SDCCAG8):c.245G>A (p.Arg82His) rs577345357 0.00006
NM_006642.5(SDCCAG8):c.283A>G (p.Arg95Gly) rs377564587 0.00006
NM_006642.5(SDCCAG8):c.280T>A (p.Ser94Thr) rs776810375 0.00005
NM_006642.5(SDCCAG8):c.968G>A (p.Arg323Lys) rs576672580 0.00005
NM_006642.5(SDCCAG8):c.1492A>G (p.Ile498Val) rs765529431 0.00004
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys) rs190020173 0.00004
NM_006642.5(SDCCAG8):c.415T>C (p.Cys139Arg) rs769333887 0.00004
NM_006642.5(SDCCAG8):c.1373G>A (p.Arg458His) rs748784645 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.518T>C (p.Leu173Pro) rs541533278 0.00003
NM_006642.5(SDCCAG8):c.66G>T (p.Arg22=) rs764668676 0.00003
NM_006642.5(SDCCAG8):c.842G>A (p.Gly281Asp) rs765751496 0.00003
NM_006642.5(SDCCAG8):c.866A>G (p.His289Arg) rs147807589 0.00003
NM_006642.5(SDCCAG8):c.1064C>A (p.Thr355Asn) rs199524638 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.1963G>A (p.Val655Ile) rs776040834 0.00002
NM_006642.5(SDCCAG8):c.661G>A (p.Glu221Lys) rs373999051 0.00002
NM_006642.5(SDCCAG8):c.718G>A (p.Glu240Lys) rs774139674 0.00002
NM_006642.5(SDCCAG8):c.918A>C (p.Glu306Asp) rs770183847 0.00002
NM_006642.5(SDCCAG8):c.1010A>G (p.Tyr337Cys) rs771991355 0.00001
NM_006642.5(SDCCAG8):c.1099G>A (p.Glu367Lys) rs780671703 0.00001
NM_006642.5(SDCCAG8):c.1121G>A (p.Arg374Gln) rs553797432 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.1210A>G (p.Met404Val) rs1298150302 0.00001
NM_006642.5(SDCCAG8):c.1222A>G (p.Met408Val) rs752002252 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.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.1375T>C (p.Tyr459His) rs1182496392 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.1642A>C (p.Ser548Arg) rs1388276184 0.00001
NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln) rs750265815 0.00001
NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro) rs771493123 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.1823A>G (p.Lys608Arg) rs760154232 0.00001
NM_006642.5(SDCCAG8):c.1888T>C (p.Tyr630His) rs138187640 0.00001
NM_006642.5(SDCCAG8):c.1913T>C (p.Leu638Ser) rs752896885 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.1986-3C>T rs757455834 0.00001
NM_006642.5(SDCCAG8):c.2026C>G (p.Gln676Glu) rs1242245359 0.00001
NM_006642.5(SDCCAG8):c.2122A>G (p.Met708Val) rs778488043 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.542C>T (p.Ala181Val) rs372403021 0.00001
NM_006642.5(SDCCAG8):c.546C>T (p.Ser182=) rs564399164 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.695A>C (p.Tyr232Ser) rs747968552 0.00001
NM_006642.5(SDCCAG8):c.707G>A (p.Cys236Tyr) rs1299404653 0.00001
NM_006642.5(SDCCAG8):c.749T>C (p.Leu250Ser) rs1357310997 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.(?_243303219)_(245027609_?)dup
NC_000001.10:g.(?_243349541)_(243419562_?)dup
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
NC_000001.10:g.(?_243589709)_(243736370_?)del
NM_006642.5(SDCCAG8):c.*14G>C
NM_006642.5(SDCCAG8):c.1003A>C (p.Ser335Arg)
NM_006642.5(SDCCAG8):c.1027G>A (p.Val343Ile) rs760942783
NM_006642.5(SDCCAG8):c.103G>T (p.Ala35Ser)
NM_006642.5(SDCCAG8):c.104C>A (p.Ala35Asp)
NM_006642.5(SDCCAG8):c.1053T>C (p.Asn351=)
NM_006642.5(SDCCAG8):c.1062A>C (p.Lys354Asn)
NM_006642.5(SDCCAG8):c.1069-3C>T
NM_006642.5(SDCCAG8):c.1079A>C (p.Gln360Pro)
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)
NM_006642.5(SDCCAG8):c.1151A>G (p.Glu384Gly) rs2074516888
NM_006642.5(SDCCAG8):c.1156A>G (p.Arg386Gly)
NM_006642.5(SDCCAG8):c.1158G>C (p.Arg386Ser)
NM_006642.5(SDCCAG8):c.116G>A (p.Gly39Asp)
NM_006642.5(SDCCAG8):c.1171G>A (p.Asp391Asn) rs2149349477
NM_006642.5(SDCCAG8):c.1176G>A (p.Met392Ile)
NM_006642.5(SDCCAG8):c.1178T>A (p.Met393Lys)
NM_006642.5(SDCCAG8):c.1186G>A (p.Glu396Lys)
NM_006642.5(SDCCAG8):c.118G>A (p.Asp40Asn)
NM_006642.5(SDCCAG8):c.118G>T (p.Asp40Tyr)
NM_006642.5(SDCCAG8):c.1193C>T (p.Thr398Met)
NM_006642.5(SDCCAG8):c.11C>G (p.Ser4Cys)
NM_006642.5(SDCCAG8):c.1221+4C>G
NM_006642.5(SDCCAG8):c.122T>C (p.Val41Ala) rs2067972241
NM_006642.5(SDCCAG8):c.1234T>A (p.Ser412Thr)
NM_006642.5(SDCCAG8):c.1244T>C (p.Ile415Thr)
NM_006642.5(SDCCAG8):c.124A>G (p.Thr42Ala)
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.1283A>G (p.Glu428Gly) rs1364309751
NM_006642.5(SDCCAG8):c.1301A>T (p.Asn434Ile)
NM_006642.5(SDCCAG8):c.1306C>G (p.Leu436Val)
NM_006642.5(SDCCAG8):c.1309G>C (p.Glu437Gln)
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
NM_006642.5(SDCCAG8):c.1358T>C (p.Val453Ala)
NM_006642.5(SDCCAG8):c.1360T>C (p.Cys454Arg)
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)
NM_006642.5(SDCCAG8):c.1426A>G (p.Arg476Gly) rs2147791136
NM_006642.5(SDCCAG8):c.1439C>A (p.Ala480Glu)
NM_006642.5(SDCCAG8):c.1452G>C (p.Arg484Ser)
NM_006642.5(SDCCAG8):c.1468G>A (p.Asp490Asn)
NM_006642.5(SDCCAG8):c.1498C>A (p.Leu500Met)
NM_006642.5(SDCCAG8):c.1507A>G (p.Ser503Gly)
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.1574C>A (p.Thr525Lys) rs999154575
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.1691A>G (p.Glu564Gly)
NM_006642.5(SDCCAG8):c.1696G>A (p.Glu566Lys)
NM_006642.5(SDCCAG8):c.1699C>G (p.Leu567Val)
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.1727C>T (p.Ala576Val) rs766677544
NM_006642.5(SDCCAG8):c.1756T>A (p.Tyr586Asn)
NM_006642.5(SDCCAG8):c.1762T>G (p.Leu588Val)
NM_006642.5(SDCCAG8):c.1764G>A (p.Leu588=)
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)
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)
NM_006642.5(SDCCAG8):c.1837A>G (p.Ile613Val) rs2148018705
NM_006642.5(SDCCAG8):c.1844A>G (p.Gln615Arg)
NM_006642.5(SDCCAG8):c.1854A>G (p.Arg618=)
NM_006642.5(SDCCAG8):c.1886G>T (p.Arg629Met) rs548855151
NM_006642.5(SDCCAG8):c.188C>T (p.Thr63Ile)
NM_006642.5(SDCCAG8):c.191C>T (p.Ala64Val)
NM_006642.5(SDCCAG8):c.1930G>C (p.Glu644Gln)
NM_006642.5(SDCCAG8):c.1931A>G (p.Glu644Gly)
NM_006642.5(SDCCAG8):c.1933T>A (p.Leu645Met)
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)
NM_006642.5(SDCCAG8):c.1984A>G (p.Arg662Gly)
NM_006642.5(SDCCAG8):c.1986-6C>G
NM_006642.5(SDCCAG8):c.1992_2009dup (p.His669_Ser670insArgGlnLeuAspLysHis) rs2148266803
NM_006642.5(SDCCAG8):c.199G>A (p.Glu67Lys)
NM_006642.5(SDCCAG8):c.19A>C (p.Asn7His)
NM_006642.5(SDCCAG8):c.2021C>T (p.Ala674Val)
NM_006642.5(SDCCAG8):c.2053A>T (p.Asn685Tyr) rs2148267056
NM_006642.5(SDCCAG8):c.2072G>A (p.Arg691Lys)
NM_006642.5(SDCCAG8):c.2078G>A (p.Ser693Asn)
NM_006642.5(SDCCAG8):c.2081T>C (p.Leu694Pro)
NM_006642.5(SDCCAG8):c.2091G>T (p.Glu697Asp)
NM_006642.5(SDCCAG8):c.2098C>T (p.Arg700Trp) rs369591883
NM_006642.5(SDCCAG8):c.209A>C (p.Gln70Pro)
NM_006642.5(SDCCAG8):c.2104C>T (p.Arg702Trp)
NM_006642.5(SDCCAG8):c.2105G>A (p.Arg702Gln) rs2148267381
NM_006642.5(SDCCAG8):c.2108C>T (p.Thr703Ile)
NM_006642.5(SDCCAG8):c.2111A>G (p.Gln704Arg)
NM_006642.5(SDCCAG8):c.2112+2T>C
NM_006642.5(SDCCAG8):c.2113-1G>T
NM_006642.5(SDCCAG8):c.2124G>A (p.Met708Ile) rs1669058410
NM_006642.5(SDCCAG8):c.2139_2141dup (p.Cys713_Ter714insCys) rs1268199421
NM_006642.5(SDCCAG8):c.220+17A>G
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)
NM_006642.5(SDCCAG8):c.263A>G (p.Glu88Gly)
NM_006642.5(SDCCAG8):c.264A>C (p.Glu88Asp)
NM_006642.5(SDCCAG8):c.277C>T (p.Pro93Ser) rs1284369812
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)
NM_006642.5(SDCCAG8):c.31G>C (p.Glu11Gln) rs773442925
NM_006642.5(SDCCAG8):c.331A>G (p.Asn111Asp)
NM_006642.5(SDCCAG8):c.359A>T (p.His120Leu)
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)
NM_006642.5(SDCCAG8):c.416G>T (p.Cys139Phe) rs773522256
NM_006642.5(SDCCAG8):c.420+5G>A
NM_006642.5(SDCCAG8):c.420G>T (p.Lys140Asn)
NM_006642.5(SDCCAG8):c.426A>T (p.Glu142Asp)
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)
NM_006642.5(SDCCAG8):c.43G>A (p.Gly15Arg)
NM_006642.5(SDCCAG8):c.452A>G (p.Gln151Arg)
NM_006642.5(SDCCAG8):c.472G>A (p.Glu158Lys)
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
NM_006642.5(SDCCAG8):c.553A>G (p.Met185Val)
NM_006642.5(SDCCAG8):c.557A>C (p.His186Pro)
NM_006642.5(SDCCAG8):c.557A>G (p.His186Arg)
NM_006642.5(SDCCAG8):c.578G>C (p.Gly193Ala) rs750128305
NM_006642.5(SDCCAG8):c.590G>C (p.Gly197Ala)
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)
NM_006642.5(SDCCAG8):c.64C>T (p.Arg22Trp)
NM_006642.5(SDCCAG8):c.655G>T (p.Ala219Ser) rs2149295739
NM_006642.5(SDCCAG8):c.675+5G>C rs968117633
NM_006642.5(SDCCAG8):c.676-3T>C
NM_006642.5(SDCCAG8):c.682C>G (p.Leu228Val)
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)
NM_006642.5(SDCCAG8):c.721T>C (p.Ser241Pro)
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)
NM_006642.5(SDCCAG8):c.760C>G (p.Gln254Glu) rs2149319564
NM_006642.5(SDCCAG8):c.761A>G (p.Gln254Arg)
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)
NM_006642.5(SDCCAG8):c.83G>A (p.Ser28Asn) rs2149262996
NM_006642.5(SDCCAG8):c.865C>T (p.His289Tyr)
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)
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)
NM_006642.5(SDCCAG8):c.998A>T (p.Glu333Val) rs2149331580

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.