ClinVar Miner

List of variants in gene BBS1, ZDHHC24 studied for abdominal and pelvic region disorder

Included ClinVar conditions (916):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP
GRCh38/hg38 11q13.2(chr11:66520912-66526178)
GRCh38/hg38 11q13.2(chr11:66528892-66536798)
NM_024649.5(BBS1):c.*104G>C rs554182779
NM_024649.5(BBS1):c.*1088G>A rs886048531
NM_024649.5(BBS1):c.*10T>A rs765633556
NM_024649.5(BBS1):c.*1215T>C rs115354748
NM_024649.5(BBS1):c.*428G>C rs41302425
NM_024649.5(BBS1):c.*473C>T rs886048526
NM_024649.5(BBS1):c.*514C>T rs886048527
NM_024649.5(BBS1):c.*522C>T rs886048528
NM_024649.5(BBS1):c.*562_*563dup rs886048529
NM_024649.5(BBS1):c.*7A>G rs8432
NM_024649.5(BBS1):c.*840A>G rs3741360
NM_024649.5(BBS1):c.*855G>A rs886048530
NM_024649.5(BBS1):c.*955G>A rs1791686
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.1036G>A (p.Val346Ile) rs201872547
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly) rs1555048530
NM_024649.5(BBS1):c.1072del (p.Tyr358fs) rs1057516533
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn) rs1565286202
NM_024649.5(BBS1):c.1110+15C>T rs371084544
NM_024649.5(BBS1):c.1110+3G>C
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956
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.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter) rs1160669210
NM_024649.5(BBS1):c.1180+5G>A rs886048525
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) rs1060503690
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.1318C>T (p.Arg440Ter) rs1014835928
NM_024649.5(BBS1):c.1334G>C (p.Gly445Ala) rs765829383
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631
NM_024649.5(BBS1):c.1340-1G>T rs1555049893
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs) rs1555049933
NM_024649.5(BBS1):c.1394G>A (p.Arg465His) rs146072788
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter) rs1565289799
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer) rs1057516901
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)
NM_024649.5(BBS1):c.1473+4A>G rs1486200900
NM_024649.5(BBS1):c.1474-8C>T rs398124402
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424
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.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala) rs1316472200
NM_024649.5(BBS1):c.1585dup (p.Ser529fs) rs1555050268
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp) rs770105141
NM_024649.5(BBS1):c.1609-2A>T rs1555050394
NM_024649.5(BBS1):c.1631T>A (p.Leu544His) rs1555050401
NM_024649.5(BBS1):c.1642del (p.Leu548fs) rs1555050404
NM_024649.5(BBS1):c.1643dup (p.Glu549fs) rs773632109
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal) rs1555050422
NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg) rs1565291081
NM_024649.5(BBS1):c.1695+10G>A rs200276861
NM_024649.5(BBS1):c.1695G>A (p.Lys565=) rs1555050427
NM_024649.5(BBS1):c.1702G>A (p.Val568Met) rs754300140
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter) rs1450045618
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044
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.724-1G>C rs748523268
NM_024649.5(BBS1):c.724-8G>C rs10896125
NM_024649.5(BBS1):c.726G>A (p.Met242Ile) rs773588060
NM_024649.5(BBS1):c.777del (p.Glu260fs) rs1555047786
NM_024649.5(BBS1):c.786del (p.Ala264fs) rs1057516330
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu) rs372939761
NM_024649.5(BBS1):c.803G>A (p.Arg268His) rs375949076
NM_024649.5(BBS1):c.830+12C>T rs781283997
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.851del (p.Tyr284fs) rs587777830
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter) rs1057516427
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)
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024649.5(BBS1):c.952-1G>A rs1057516661
NM_024649.5(BBS1):c.952-1G>C rs1057516661
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg) rs1555048487
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482
NM_024649.5(BBS1):c.981del (p.Ala328fs) rs1057516371
Single allele

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