ClinVar Miner

List of variants in gene SDCCAG8 reported as likely benign for Senior-Loken syndrome 7; Bardet-Biedl syndrome 16

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=) rs149837444 0.00179
NM_006642.5(SDCCAG8):c.929+18C>T rs200895248 0.00164
NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His) rs150646039 0.00138
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966 0.00088
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His) rs79762798 0.00070
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970 0.00068
NM_006642.5(SDCCAG8):c.1474-6C>T rs376414138 0.00068
NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile) rs149359674 0.00067
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920 0.00050
NM_006642.5(SDCCAG8):c.547-4T>G rs12080579 0.00049
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=) rs138449445 0.00034
NM_006642.5(SDCCAG8):c.221-4A>G rs373526073 0.00016
NM_006642.5(SDCCAG8):c.421-16G>T rs780682849 0.00016
NM_006642.5(SDCCAG8):c.1474-20T>C rs185598556 0.00015
NM_006642.5(SDCCAG8):c.929+16C>T rs374451621 0.00015
NM_006642.5(SDCCAG8):c.929+17G>A rs376439930 0.00014
NM_006642.5(SDCCAG8):c.740+14G>A rs373462087 0.00010
NM_006642.5(SDCCAG8):c.729G>A (p.Leu243=) rs199629519 0.00009
NM_006642.5(SDCCAG8):c.1744+20T>G rs368472127 0.00008
NM_006642.5(SDCCAG8):c.915C>T (p.Ile305=) rs371251483 0.00008
NM_006642.5(SDCCAG8):c.543A>C (p.Ala181=) rs375641930 0.00007
NM_006642.5(SDCCAG8):c.67+20T>C rs562137055 0.00007
NM_006642.5(SDCCAG8):c.99A>G (p.Thr33=) rs150953430 0.00007
NM_006642.5(SDCCAG8):c.1071T>C (p.Ala357=) rs144234264 0.00006
NM_006642.5(SDCCAG8):c.1935G>A (p.Leu645=) rs185944691 0.00006
NM_006642.5(SDCCAG8):c.220+20C>T rs200013862 0.00006
NM_006642.5(SDCCAG8):c.1752A>G (p.Glu584=) rs1007802384 0.00005
NM_006642.5(SDCCAG8):c.180C>T (p.Asp60=) rs377358593 0.00005
NM_006642.5(SDCCAG8):c.740+16C>G rs1195660317 0.00005
NM_006642.5(SDCCAG8):c.1617-16C>G rs765508271 0.00004
NM_006642.5(SDCCAG8):c.307-10T>A rs371148493 0.00004
NM_006642.5(SDCCAG8):c.963C>T (p.Ser321=) rs751551796 0.00004
NM_006642.5(SDCCAG8):c.987G>A (p.Thr329=) rs778065772 0.00004
NM_006642.5(SDCCAG8):c.1086C>T (p.Asp362=) rs753378348 0.00003
NM_006642.5(SDCCAG8):c.1116G>A (p.Ala372=) rs533721896 0.00003
NM_006642.5(SDCCAG8):c.1616+20T>C rs370951420 0.00003
NM_006642.5(SDCCAG8):c.1745-8A>T rs971078363 0.00003
NM_006642.5(SDCCAG8):c.220+17A>G rs772231725 0.00003
NM_006642.5(SDCCAG8):c.221-13T>C rs767180004 0.00003
NM_006642.5(SDCCAG8):c.471C>T (p.Asn157=) rs769881390 0.00003
NM_006642.5(SDCCAG8):c.480C>T (p.Leu160=) rs371348715 0.00003
NM_006642.5(SDCCAG8):c.676-4A>G rs377256554 0.00003
NM_006642.5(SDCCAG8):c.930-17T>C rs1014619954 0.00003
NM_006642.5(SDCCAG8):c.996A>G (p.Arg332=) rs142658750 0.00003
NM_006642.5(SDCCAG8):c.1131A>G (p.Lys377=) rs775394110 0.00002
NM_006642.5(SDCCAG8):c.1449C>T (p.Asn483=) rs962469606 0.00002
NM_006642.5(SDCCAG8):c.1914A>G (p.Leu638=) rs756352013 0.00002
NM_006642.5(SDCCAG8):c.1956T>C (p.His652=) rs1020778840 0.00002
NM_006642.5(SDCCAG8):c.207A>G (p.Gln69=) rs200994363 0.00002
NM_006642.5(SDCCAG8):c.498T>G (p.Ser166=) rs762183907 0.00002
NM_006642.5(SDCCAG8):c.63C>T (p.Leu21=) rs763991953 0.00002
NM_006642.5(SDCCAG8):c.741-7T>C rs755931555 0.00002
NM_006642.5(SDCCAG8):c.1014A>G (p.Glu338=) rs1273356500 0.00001
NM_006642.5(SDCCAG8):c.1069-8C>T rs752672598 0.00001
NM_006642.5(SDCCAG8):c.1095G>A (p.Arg365=) rs2527970378 0.00001
NM_006642.5(SDCCAG8):c.1137T>G (p.Leu379=) rs2074516253 0.00001
NM_006642.5(SDCCAG8):c.1194G>A (p.Thr398=) rs542036953 0.00001
NM_006642.5(SDCCAG8):c.1222-9C>T rs1005846276 0.00001
NM_006642.5(SDCCAG8):c.1357-20A>G rs200921543 0.00001
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=) rs759125934 0.00001
NM_006642.5(SDCCAG8):c.1503T>C (p.Asp501=) rs757292520 0.00001
NM_006642.5(SDCCAG8):c.1527G>A (p.Gln509=) rs2077756382 0.00001
NM_006642.5(SDCCAG8):c.1587C>T (p.Gly529=) rs144194469 0.00001
NM_006642.5(SDCCAG8):c.1616+19A>G rs779626504 0.00001
NM_006642.5(SDCCAG8):c.1744+12G>A rs2080540385 0.00001
NM_006642.5(SDCCAG8):c.1745-14A>C rs764318612 0.00001
NM_006642.5(SDCCAG8):c.1815A>G (p.Thr605=) rs775004929 0.00001
NM_006642.5(SDCCAG8):c.1828C>T (p.Leu610=) rs763772496 0.00001
NM_006642.5(SDCCAG8):c.1833A>G (p.Glu611=) rs753503326 0.00001
NM_006642.5(SDCCAG8):c.1853+14T>C rs1448118420 0.00001
NM_006642.5(SDCCAG8):c.1854-18T>C rs1320996952 0.00001
NM_006642.5(SDCCAG8):c.1887G>A (p.Arg629=) rs765653727 0.00001
NM_006642.5(SDCCAG8):c.1896T>C (p.Tyr632=) rs755070198 0.00001
NM_006642.5(SDCCAG8):c.1985+14C>T rs767593699 0.00001
NM_006642.5(SDCCAG8):c.198C>T (p.Pro66=) rs201715098 0.00001
NM_006642.5(SDCCAG8):c.306+17C>T rs2068044491 0.00001
NM_006642.5(SDCCAG8):c.306+8T>C rs755109862 0.00001
NM_006642.5(SDCCAG8):c.307-4A>G rs557656507 0.00001
NM_006642.5(SDCCAG8):c.393T>C (p.His131=) rs1476780915 0.00001
NM_006642.5(SDCCAG8):c.420+8T>C rs1276142774 0.00001
NM_006642.5(SDCCAG8):c.517C>T (p.Leu173=) rs373877739 0.00001
NM_006642.5(SDCCAG8):c.546+11T>C rs779296720 0.00001
NM_006642.5(SDCCAG8):c.67+17C>G rs1311985140 0.00001
NM_006642.5(SDCCAG8):c.67+18T>G rs1196615059 0.00001
NM_006642.5(SDCCAG8):c.676-9T>C rs777679135 0.00001
NM_006642.5(SDCCAG8):c.68-19C>T rs776422382 0.00001
NM_006642.5(SDCCAG8):c.727T>C (p.Leu243=) rs756533597 0.00001
NM_006642.5(SDCCAG8):c.740+11A>C rs1047427016 0.00001
NM_006642.5(SDCCAG8):c.858T>C (p.Cys286=) rs1376976473 0.00001
NM_006642.5(SDCCAG8):c.894T>C (p.Thr298=) rs963205260 0.00001
NM_006642.5(SDCCAG8):c.929+19G>A rs753008205 0.00001
NM_006642.5(SDCCAG8):c.930-4A>T rs774972770 0.00001
NM_006642.5(SDCCAG8):c.933A>G (p.Glu311=) rs1380704597 0.00001
NM_006642.5(SDCCAG8):c.1068+10A>C rs2073291837
NM_006642.5(SDCCAG8):c.1068+17G>A rs564475323
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) rs115098969
NM_006642.5(SDCCAG8):c.1222-12T>G rs2147781941
NM_006642.5(SDCCAG8):c.1222-16T>C
NM_006642.5(SDCCAG8):c.1260C>G (p.Ala420=) rs2528029743
NM_006642.5(SDCCAG8):c.1263G>A (p.Gln421=) rs2147782083
NM_006642.5(SDCCAG8):c.1284A>G (p.Glu428=) rs2528029901
NM_006642.5(SDCCAG8):c.12C>G (p.Ser4=) rs577033259
NM_006642.5(SDCCAG8):c.12C>T (p.Ser4=) rs577033259
NM_006642.5(SDCCAG8):c.1336C>A (p.Arg446=) rs769286565
NM_006642.5(SDCCAG8):c.1357-12A>T rs754786846
NM_006642.5(SDCCAG8):c.1357-17T>C rs2528047340
NM_006642.5(SDCCAG8):c.138T>C (p.Asp46=) rs2149263076
NM_006642.5(SDCCAG8):c.1422G>A (p.Glu474=) rs2528047905
NM_006642.5(SDCCAG8):c.1473+14_1473+21del rs745398975
NM_006642.5(SDCCAG8):c.1473+16G>T
NM_006642.5(SDCCAG8):c.1474-16C>T rs2147905078
NM_006642.5(SDCCAG8):c.1474-19C>T rs777106641
NM_006642.5(SDCCAG8):c.1474-8T>C rs2147905136
NM_006642.5(SDCCAG8):c.1542A>C (p.Ala514=) rs2528231069
NM_006642.5(SDCCAG8):c.15G>T (p.Pro5=) rs922791738
NM_006642.5(SDCCAG8):c.1614C>T (p.Thr538=) rs2077762211
NM_006642.5(SDCCAG8):c.1616+13C>T rs2528231676
NM_006642.5(SDCCAG8):c.1616+14C>G rs1051919568
NM_006642.5(SDCCAG8):c.1617-16C>T
NM_006642.5(SDCCAG8):c.1617-5T>C rs904057670
NM_006642.5(SDCCAG8):c.1620G>A (p.Gln540=) rs2528443085
NM_006642.5(SDCCAG8):c.1653G>A (p.Lys551=) rs2528443297
NM_006642.5(SDCCAG8):c.1671C>A (p.Ala557=) rs2528443427
NM_006642.5(SDCCAG8):c.1683G>A (p.Gln561=) rs2148013434
NM_006642.5(SDCCAG8):c.168G>A (p.Val56=) rs1161608103
NM_006642.5(SDCCAG8):c.1744+9T>C rs2148013630
NM_006642.5(SDCCAG8):c.1745-13T>C
NM_006642.5(SDCCAG8):c.1745-6T>C rs2528455592
NM_006642.5(SDCCAG8):c.1755G>A (p.Gln585=) rs1472982763
NM_006642.5(SDCCAG8):c.1770C>T (p.Thr590=) rs2080721977
NM_006642.5(SDCCAG8):c.1788G>A (p.Leu596=)
NM_006642.5(SDCCAG8):c.1853+13A>G rs2148018785
NM_006642.5(SDCCAG8):c.1854-6C>T rs951967006
NM_006642.5(SDCCAG8):c.1854-7C>T rs2528508655
NM_006642.5(SDCCAG8):c.1893A>G (p.Thr631=) rs752070511
NM_006642.5(SDCCAG8):c.1985+15A>G rs752697949
NM_006642.5(SDCCAG8):c.1985+17G>A
NM_006642.5(SDCCAG8):c.216T>C (p.His72=) rs2149263160
NM_006642.5(SDCCAG8):c.220+7G>A rs745990713
NM_006642.5(SDCCAG8):c.221-10T>C rs2547830152
NM_006642.5(SDCCAG8):c.221-14del rs2547830145
NM_006642.5(SDCCAG8):c.255A>G (p.Ala85=) rs2068038954
NM_006642.5(SDCCAG8):c.264A>G (p.Glu88=) rs2547830260
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_006642.5(SDCCAG8):c.28C>T (p.Leu10=) rs769986119
NM_006642.5(SDCCAG8):c.300C>T (p.Ser100=)
NM_006642.5(SDCCAG8):c.306+11A>G rs781456866
NM_006642.5(SDCCAG8):c.306+12C>T rs2547830410
NM_006642.5(SDCCAG8):c.307-5C>T rs2149268621
NM_006642.5(SDCCAG8):c.366T>C (p.Ile122=) rs2149268701
NM_006642.5(SDCCAG8):c.378T>G (p.Ser126=) rs2547836408
NM_006642.5(SDCCAG8):c.420+11C>T rs1217115824
NM_006642.5(SDCCAG8):c.420+12A>G rs2068379887
NM_006642.5(SDCCAG8):c.420+20T>C rs2547836511
NM_006642.5(SDCCAG8):c.421-11_421-8del rs753201767
NM_006642.5(SDCCAG8):c.453A>G (p.Gln151=) rs2547851172
NM_006642.5(SDCCAG8):c.48G>A (p.Gln16=) rs1398602761
NM_006642.5(SDCCAG8):c.501A>G (p.Gln167=) rs1265778354
NM_006642.5(SDCCAG8):c.546+19C>T rs2547851358
NM_006642.5(SDCCAG8):c.547-13C>T rs2547859433
NM_006642.5(SDCCAG8):c.588T>C (p.Ser196=) rs2547859565
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.597C>T (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.657T>C (p.Ala219=) rs2547859707
NM_006642.5(SDCCAG8):c.67+10T>C rs749940364
NM_006642.5(SDCCAG8):c.67+17CT[3] rs2066659937
NM_006642.5(SDCCAG8):c.67+20T>G rs562137055
NM_006642.5(SDCCAG8):c.68-14G>C
NM_006642.5(SDCCAG8):c.68-18G>A rs373020926
NM_006642.5(SDCCAG8):c.68-20T>C rs200054776
NM_006642.5(SDCCAG8):c.740+18A>C rs1394032819
NM_006642.5(SDCCAG8):c.740+7T>A rs2149314969
NM_006642.5(SDCCAG8):c.756A>G (p.Glu252=)
NM_006642.5(SDCCAG8):c.810T>A (p.Leu270=) rs1573159964
NM_006642.5(SDCCAG8):c.837T>C (p.Val279=)
NM_006642.5(SDCCAG8):c.891T>C (p.His297=) rs1017949399
NM_006642.5(SDCCAG8):c.929+13C>G rs201615763
NM_006642.5(SDCCAG8):c.930-7del rs2547897578
NM_006642.5(SDCCAG8):c.954A>C (p.Ala318=) rs750272621
NM_006642.5(SDCCAG8):c.963C>G (p.Ser321=) rs751551796
NM_006642.5(SDCCAG8):c.976T>C (p.Leu326=) rs2149331545

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