ClinVar Miner

List of variants reported as uncertain significance for Senior-Loken syndrome 7 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 246
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.1069-8C>T rs752672598 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.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.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.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.67+17C>G rs1311985140 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
NM_006642.5(SDCCAG8):c.1027G>A (p.Val343Ile) rs760942783
NM_006642.5(SDCCAG8):c.103G>T (p.Ala35Ser)
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.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.1158G>C (p.Arg386Ser)
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.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.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.1356G>A (p.Lys452=) rs1057515483
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.1397T>G (p.Met466Arg) rs2147791053
NM_006642.5(SDCCAG8):c.1411G>A (p.Ala471Thr) rs775752533
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.1498C>A (p.Leu500Met)
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.1574C>A (p.Thr525Lys) rs999154575
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys) rs753709808
NM_006642.5(SDCCAG8):c.1610T>G (p.Leu537Arg) rs1032332223
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.1764G>A (p.Leu588=)
NM_006642.5(SDCCAG8):c.1769C>A (p.Thr590Asn) rs2148018533
NM_006642.5(SDCCAG8):c.181G>A (p.Ala61Thr)
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser) rs149928402
NM_006642.5(SDCCAG8):c.182C>A (p.Ala61Asp)
NM_006642.5(SDCCAG8):c.1837A>G (p.Ile613Val) rs2148018705
NM_006642.5(SDCCAG8):c.1854A>G (p.Arg618=)
NM_006642.5(SDCCAG8):c.1886G>T (p.Arg629Met) rs548855151
NM_006642.5(SDCCAG8):c.191C>T (p.Ala64Val)
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.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.1992_2009dup (p.His669_Ser670insArgGlnLeuAspLysHis) rs2148266803
NM_006642.5(SDCCAG8):c.2021C>T (p.Ala674Val)
NM_006642.5(SDCCAG8):c.2053A>T (p.Asn685Tyr) rs2148267056
NM_006642.5(SDCCAG8):c.2078G>A (p.Ser693Asn)
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.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.Cys713dup) rs1268199421
NM_006642.5(SDCCAG8):c.22T>C (p.Ser8Pro) rs1193390013
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.277C>T (p.Pro93Ser) rs1284369812
NM_006642.5(SDCCAG8):c.284GAA[2] (p.Arg97del) rs751190536
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.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.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.620C>T (p.Ser207Phe) rs1182767716
NM_006642.5(SDCCAG8):c.62_64dup (p.Leu21_Arg22insLeu)
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.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.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.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.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

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