ClinVar Miner

List of variants in gene BBS1, ZDHHC24 studied for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
Download table as spreadsheet
HGVS dbSNP
GRCh38/hg38 11q13.2(chr11:66520912-66526178)
GRCh38/hg38 11q13.2(chr11:66528892-66536798)
NM_024649.5(BBS1):c.*562_*563dup rs886048529
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter) rs869025205
NM_024649.5(BBS1):c.1016A>T (p.His339Leu) rs1389335279
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp)
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547
NM_024649.5(BBS1):c.1059A>G (p.Gly353=) rs199692416
NM_024649.5(BBS1):c.1072del (p.Tyr358fs) rs1057516533
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu)
NM_024649.5(BBS1):c.1110+3G>C rs762276925
NM_024649.5(BBS1):c.1111-2A>G
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) rs1565287512
NM_024649.5(BBS1):c.1126_1130CTTTG[1] (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) rs752299442
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) rs758139447
NM_024649.5(BBS1):c.1155C>G (p.Asp385Glu)
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter) rs1160669210
NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln) rs772235333
NM_024649.5(BBS1):c.1181-6C>T rs368445790
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824
NM_024649.5(BBS1):c.1235del (p.Gly412fs)
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) rs1060503690
NM_024649.5(BBS1):c.1243G>A (p.Val415Met)
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr)
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser) rs755782127
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1285dup (p.Arg429fs) rs1565287921
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys)
NM_024649.5(BBS1):c.1395C>T (p.Arg465=) rs756550025
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.1424dup (p.Ser476fs) rs886039798
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys) rs374706769
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125
NM_024649.5(BBS1):c.1473+4A>G rs1486200900
NM_024649.5(BBS1):c.1474-8C>T rs398124402
NM_024649.5(BBS1):c.1485T>C (p.Leu495=) rs373894194
NM_024649.5(BBS1):c.1533C>T (p.Thr511=) rs112953332
NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser)
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778
NM_024649.5(BBS1):c.1565T>C (p.Leu522Pro)
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala) rs1316472200
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu)
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp) rs770105141
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu)
NM_024649.5(BBS1):c.1614del (p.Leu539fs)
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777
NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg) rs1565291081
NM_024649.5(BBS1):c.1695+10G>A rs200276861
NM_024649.5(BBS1):c.1695+9C>T rs756514477
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln)
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044
NM_024649.5(BBS1):c.1737T>G (p.Ser579Arg)
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560
NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys) rs761304709
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val) rs144492051
NM_024649.5(BBS1):c.1773G>A (p.Ala591=) rs147783319
NM_024649.5(BBS1):c.724-8G>C rs10896125
NM_024649.5(BBS1):c.725T>C (p.Met242Thr)
NM_024649.5(BBS1):c.726G>A (p.Met242Ile) rs773588060
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu)
NM_024649.5(BBS1):c.738C>T (p.Ser246=) rs775266312
NM_024649.5(BBS1):c.739G>A (p.Val247Ile)
NM_024649.5(BBS1):c.744C>T (p.Pro248=) rs528073027
NM_024649.5(BBS1):c.750C>T (p.Phe250=) rs750108791
NM_024649.5(BBS1):c.751C>G (p.Leu251Val)
NM_024649.5(BBS1):c.767del (p.Gln256fs) rs1590762360
NM_024649.5(BBS1):c.771T>G (p.Phe257Leu)
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu) rs372939761
NM_024649.5(BBS1):c.798C>G (p.Ala266=) rs1408073931
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.831-5C>T rs56177555
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn) rs780169168
NM_024649.5(BBS1):c.851del (p.Tyr284fs) rs587777830
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024649.5(BBS1):c.877G>A (p.Val293Met) rs769422545
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr) rs145094101
NM_024649.5(BBS1):c.901G>A (p.Val301Ile)
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024649.5(BBS1):c.951+7C>A rs780784789
NM_024649.5(BBS1):c.952-7C>G rs1590767187
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482
Single allele

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.