ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 170
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met) rs35859404 0.00342
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=) rs149837444 0.00190
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.279G>A (p.Pro93=) rs145877279 0.00120
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966 0.00094
NM_006642.5(SDCCAG8):c.-4G>A rs113193158 0.00083
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His) rs79762798 0.00077
NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile) rs149359674 0.00072
NM_006642.5(SDCCAG8):c.1474-6C>T rs376414138 0.00068
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970 0.00062
NM_006642.5(SDCCAG8):c.547-4T>G rs12080579 0.00049
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=) rs138449445 0.00036
NM_006642.5(SDCCAG8):c.221-4A>G rs373526073 0.00018
NM_006642.5(SDCCAG8):c.1474-20T>C rs185598556 0.00016
NM_006642.5(SDCCAG8):c.421-16G>T rs780682849 0.00016
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.929+16C>T rs374451621 0.00010
NM_006642.5(SDCCAG8):c.729G>A (p.Leu243=) rs199629519 0.00009
NM_006642.5(SDCCAG8):c.915C>T (p.Ile305=) rs371251483 0.00009
NM_006642.5(SDCCAG8):c.1744+20T>G rs368472127 0.00008
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.99A>G (p.Thr33=) rs150953430 0.00006
NM_006642.5(SDCCAG8):c.180C>T (p.Asp60=) rs377358593 0.00005
NM_006642.5(SDCCAG8):c.498T>G (p.Ser166=) rs762183907 0.00005
NM_006642.5(SDCCAG8):c.67+20T>C rs562137055 0.00005
NM_006642.5(SDCCAG8):c.1617-16C>G rs765508271 0.00004
NM_006642.5(SDCCAG8):c.1752A>G (p.Glu584=) rs1007802384 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.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.676-4A>G rs377256554 0.00003
NM_006642.5(SDCCAG8):c.987G>A (p.Thr329=) rs778065772 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.207A>G (p.Gln69=) rs200994363 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.929+19G>A rs753008205 0.00002
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.1914A>G (p.Leu638=) rs756352013 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.517C>T (p.Leu173=) rs373877739 0.00001
NM_006642.5(SDCCAG8):c.67+18T>G rs1196615059 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.929+13C>G rs201615763 0.00001
NM_006642.5(SDCCAG8):c.1014A>G (p.Glu338=)
NM_006642.5(SDCCAG8):c.1068+10A>C rs2073291837
NM_006642.5(SDCCAG8):c.1068+17G>A
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) rs115098969
NM_006642.5(SDCCAG8):c.1095G>A (p.Arg365=)
NM_006642.5(SDCCAG8):c.1137T>G (p.Leu379=) rs2074516253
NM_006642.5(SDCCAG8):c.1194G>A (p.Thr398=) rs542036953
NM_006642.5(SDCCAG8):c.1222-12T>G rs2147781941
NM_006642.5(SDCCAG8):c.1222-9C>T rs1005846276
NM_006642.5(SDCCAG8):c.1260C>G (p.Ala420=)
NM_006642.5(SDCCAG8):c.1263G>A (p.Gln421=) rs2147782083
NM_006642.5(SDCCAG8):c.1284A>G (p.Glu428=)
NM_006642.5(SDCCAG8):c.12C>G (p.Ser4=) rs577033259
NM_006642.5(SDCCAG8):c.12C>T (p.Ser4=)
NM_006642.5(SDCCAG8):c.1336C>A (p.Arg446=)
NM_006642.5(SDCCAG8):c.1357-12A>T
NM_006642.5(SDCCAG8):c.1357-17T>C
NM_006642.5(SDCCAG8):c.138T>C (p.Asp46=) rs2149263076
NM_006642.5(SDCCAG8):c.1422G>A (p.Glu474=)
NM_006642.5(SDCCAG8):c.1473+14_1473+21del
NM_006642.5(SDCCAG8):c.1474-16C>T rs2147905078
NM_006642.5(SDCCAG8):c.1474-19C>T
NM_006642.5(SDCCAG8):c.1474-8T>C rs2147905136
NM_006642.5(SDCCAG8):c.1542A>C (p.Ala514=)
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
NM_006642.5(SDCCAG8):c.1616+14C>G rs1051919568
NM_006642.5(SDCCAG8):c.1616+19A>G
NM_006642.5(SDCCAG8):c.1617-5T>C rs904057670
NM_006642.5(SDCCAG8):c.1620G>A (p.Gln540=)
NM_006642.5(SDCCAG8):c.1653G>A (p.Lys551=)
NM_006642.5(SDCCAG8):c.1671C>A (p.Ala557=)
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+12G>A
NM_006642.5(SDCCAG8):c.1744+9T>C rs2148013630
NM_006642.5(SDCCAG8):c.1745-14A>C
NM_006642.5(SDCCAG8):c.1745-6T>C
NM_006642.5(SDCCAG8):c.1745-8A>T
NM_006642.5(SDCCAG8):c.1755G>A (p.Gln585=)
NM_006642.5(SDCCAG8):c.1770C>T (p.Thr590=) rs2080721977
NM_006642.5(SDCCAG8):c.1815A>G (p.Thr605=)
NM_006642.5(SDCCAG8):c.1828C>T (p.Leu610=)
NM_006642.5(SDCCAG8):c.1833A>G (p.Glu611=)
NM_006642.5(SDCCAG8):c.1853+13A>G rs2148018785
NM_006642.5(SDCCAG8):c.1853+14T>C
NM_006642.5(SDCCAG8):c.1854-18T>C
NM_006642.5(SDCCAG8):c.1854-6C>T rs951967006
NM_006642.5(SDCCAG8):c.1854-7C>T
NM_006642.5(SDCCAG8):c.1887G>A (p.Arg629=)
NM_006642.5(SDCCAG8):c.1893A>G (p.Thr631=)
NM_006642.5(SDCCAG8):c.1896T>C (p.Tyr632=)
NM_006642.5(SDCCAG8):c.1956T>C (p.His652=)
NM_006642.5(SDCCAG8):c.1985+14C>T
NM_006642.5(SDCCAG8):c.1985+15A>G
NM_006642.5(SDCCAG8):c.216T>C (p.His72=) rs2149263160
NM_006642.5(SDCCAG8):c.220+17A>G
NM_006642.5(SDCCAG8):c.220+7G>A
NM_006642.5(SDCCAG8):c.221-10T>C
NM_006642.5(SDCCAG8):c.221-13T>C
NM_006642.5(SDCCAG8):c.221-14del
NM_006642.5(SDCCAG8):c.255A>G (p.Ala85=)
NM_006642.5(SDCCAG8):c.264A>G (p.Glu88=)
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_006642.5(SDCCAG8):c.28C>T (p.Leu10=)
NM_006642.5(SDCCAG8):c.306+11A>G rs781456866
NM_006642.5(SDCCAG8):c.306+12C>T
NM_006642.5(SDCCAG8):c.307-4A>G
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=)
NM_006642.5(SDCCAG8):c.420+11C>T
NM_006642.5(SDCCAG8):c.420+12A>G rs2068379887
NM_006642.5(SDCCAG8):c.420+20T>C
NM_006642.5(SDCCAG8):c.420+8T>C
NM_006642.5(SDCCAG8):c.421-11_421-8del
NM_006642.5(SDCCAG8):c.453A>G (p.Gln151=)
NM_006642.5(SDCCAG8):c.471C>T (p.Asn157=)
NM_006642.5(SDCCAG8):c.480C>T (p.Leu160=)
NM_006642.5(SDCCAG8):c.48G>A (p.Gln16=)
NM_006642.5(SDCCAG8):c.501A>G (p.Gln167=) rs1265778354
NM_006642.5(SDCCAG8):c.543A>C (p.Ala181=)
NM_006642.5(SDCCAG8):c.546+11T>C
NM_006642.5(SDCCAG8):c.546+19C>T
NM_006642.5(SDCCAG8):c.547-13C>T
NM_006642.5(SDCCAG8):c.588T>C (p.Ser196=)
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=)
NM_006642.5(SDCCAG8):c.67+10T>C
NM_006642.5(SDCCAG8):c.67+17CT[3] rs2066659937
NM_006642.5(SDCCAG8):c.67+20T>G
NM_006642.5(SDCCAG8):c.676-9T>C
NM_006642.5(SDCCAG8):c.68-18G>A rs373020926
NM_006642.5(SDCCAG8):c.68-19C>T
NM_006642.5(SDCCAG8):c.68-20T>C
NM_006642.5(SDCCAG8):c.727T>C (p.Leu243=)
NM_006642.5(SDCCAG8):c.740+16C>G
NM_006642.5(SDCCAG8):c.740+18A>C rs1394032819
NM_006642.5(SDCCAG8):c.740+7T>A rs2149314969
NM_006642.5(SDCCAG8):c.810T>A (p.Leu270=) rs1573159964
NM_006642.5(SDCCAG8):c.891T>C (p.His297=) rs1017949399
NM_006642.5(SDCCAG8):c.894T>C (p.Thr298=)
NM_006642.5(SDCCAG8):c.930-17T>C
NM_006642.5(SDCCAG8):c.930-4A>T
NM_006642.5(SDCCAG8):c.930-7del
NM_006642.5(SDCCAG8):c.933A>G (p.Glu311=)
NM_006642.5(SDCCAG8):c.954A>C (p.Ala318=) rs750272621
NM_006642.5(SDCCAG8):c.963C>G (p.Ser321=)
NM_006642.5(SDCCAG8):c.976T>C (p.Leu326=) rs2149331545

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.