ClinVar Miner

List of variants in gene BBS4 reported as likely benign for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 282
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HGVS dbSNP gnomAD frequency
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981 0.00118
NM_033028.5(BBS4):c.157-19A>G rs373166573 0.00046
NM_033028.5(BBS4):c.1140G>A (p.Val380=) rs141511580 0.00036
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_033028.5(BBS4):c.24+18C>G rs368789560 0.00034
NM_033028.5(BBS4):c.864G>A (p.Ala288=) rs141345544 0.00022
NM_033028.5(BBS4):c.1107-11G>C rs373344695 0.00020
NM_033028.5(BBS4):c.1136C>T (p.Ala379Val) rs147269475 0.00016
NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs) rs398124432 0.00014
NM_033028.5(BBS4):c.587+12T>C rs371519164 0.00013
NM_033028.5(BBS4):c.372T>C (p.Tyr124=) rs141903251 0.00012
NM_033028.5(BBS4):c.513T>C (p.Tyr171=) rs367882912 0.00012
NM_033028.5(BBS4):c.405+7A>G rs778651927 0.00007
NM_033028.5(BBS4):c.1083C>T (p.Tyr361=) rs749282837 0.00006
NM_033028.5(BBS4):c.1107-7G>A rs766664389 0.00006
NM_033028.5(BBS4):c.639A>G (p.Leu213=) rs149663241 0.00006
NM_033028.5(BBS4):c.643-6T>C rs753675755 0.00006
NM_033028.5(BBS4):c.1158C>T (p.Gly386=) rs1057402744 0.00005
NM_033028.5(BBS4):c.1170C>T (p.Asn390=) rs376378002 0.00005
NM_033028.5(BBS4):c.587+7G>C rs755929085 0.00005
NM_033028.5(BBS4):c.643-20_643-19del rs776030864 0.00005
NM_033028.5(BBS4):c.663A>G (p.Ala221=) rs574868161 0.00005
NM_033028.5(BBS4):c.76+18dup rs745516764 0.00005
NM_033028.5(BBS4):c.864+20C>G rs753099644 0.00005
NM_033028.5(BBS4):c.1311C>G (p.Thr437=) rs945847885 0.00004
NM_033028.5(BBS4):c.325A>C (p.Arg109=) rs199809442 0.00004
NM_033028.5(BBS4):c.480T>C (p.Asn160=) rs894151156 0.00004
NM_033028.5(BBS4):c.501C>T (p.His167=) rs745789574 0.00004
NM_033028.5(BBS4):c.645C>T (p.Leu215=) rs373731535 0.00004
NM_033028.5(BBS4):c.6T>A (p.Ala2=) rs954863260 0.00004
NM_033028.5(BBS4):c.712-14T>A rs375598833 0.00004
NM_033028.5(BBS4):c.747C>T (p.His249=) rs776079791 0.00004
NM_033028.5(BBS4):c.864+10C>T rs201979024 0.00004
NM_033028.5(BBS4):c.1270T>C (p.Leu424=) rs376011637 0.00003
NM_033028.5(BBS4):c.928T>C (p.Leu310=) rs375714932 0.00003
NM_033028.5(BBS4):c.963A>G (p.Ala321=) rs368144793 0.00003
NM_033028.5(BBS4):c.12G>A (p.Glu4=) rs543735239 0.00002
NM_033028.5(BBS4):c.1443C>T (p.Leu481=) rs748092163 0.00002
NM_033028.5(BBS4):c.153C>T (p.Cys51=) rs754709708 0.00002
NM_033028.5(BBS4):c.25-18C>T rs140934493 0.00002
NM_033028.5(BBS4):c.282A>G (p.Ala94=) rs370868102 0.00002
NM_033028.5(BBS4):c.1029C>T (p.Leu343=) rs1000977139 0.00001
NM_033028.5(BBS4):c.1107-19G>C rs763043698 0.00001
NM_033028.5(BBS4):c.1179C>T (p.Ala393=) rs780560947 0.00001
NM_033028.5(BBS4):c.1182A>G (p.Gln394=) rs771579669 0.00001
NM_033028.5(BBS4):c.1249-12T>C rs759275107 0.00001
NM_033028.5(BBS4):c.1450+10T>C rs886042845 0.00001
NM_033028.5(BBS4):c.1512G>A (p.Ala504=) rs369958857 0.00001
NM_033028.5(BBS4):c.24+16C>G rs377301298 0.00001
NM_033028.5(BBS4):c.24+7G>A rs373861071 0.00001
NM_033028.5(BBS4):c.332+8T>C rs1456405256 0.00001
NM_033028.5(BBS4):c.402T>C (p.Asp134=) rs1567416229 0.00001
NM_033028.5(BBS4):c.405+10G>C rs1216711857 0.00001
NM_033028.5(BBS4):c.408G>A (p.Glu136=) rs201881253 0.00001
NM_033028.5(BBS4):c.420C>T (p.Asn140=) rs763224665 0.00001
NM_033028.5(BBS4):c.42A>G (p.Val14=) rs113994181 0.00001
NM_033028.5(BBS4):c.535T>C (p.Leu179=) rs539768891 0.00001
NM_033028.5(BBS4):c.546A>G (p.Gly182=) rs147218625 0.00001
NM_033028.5(BBS4):c.588-9A>G rs553655236 0.00001
NM_033028.5(BBS4):c.624A>G (p.Leu208=) rs1318415066 0.00001
NM_033028.5(BBS4):c.63C>T (p.Pro21=) rs267604309 0.00001
NM_033028.5(BBS4):c.642+11del rs747510870 0.00001
NM_033028.5(BBS4):c.684A>C (p.Ala228=) rs35132058 0.00001
NM_033028.5(BBS4):c.708C>T (p.Tyr236=) rs770211437 0.00001
NM_033028.5(BBS4):c.712-8G>A rs2065815184 0.00001
NM_033028.5(BBS4):c.714C>T (p.Ala238=) rs756435227 0.00001
NM_033028.5(BBS4):c.741G>A (p.Gln247=) rs368525772 0.00001
NM_033028.5(BBS4):c.777C>T (p.Tyr259=) rs200469783 0.00001
NM_033028.5(BBS4):c.825C>T (p.Asn275=) rs1439728758 0.00001
NM_033028.5(BBS4):c.864+9C>T rs775416661 0.00001
NM_033028.5(BBS4):c.987G>A (p.Ala329=) rs1296549307 0.00001
NM_033028.5(BBS4):c.1020C>T (p.Leu340=)
NM_033028.5(BBS4):c.1023C>T (p.Tyr341=)
NM_033028.5(BBS4):c.1036+11T>C
NM_033028.5(BBS4):c.1036+18G>A
NM_033028.5(BBS4):c.1036+19G>A
NM_033028.5(BBS4):c.1036+19G>C rs2151048330
NM_033028.5(BBS4):c.1036+8A>G
NM_033028.5(BBS4):c.1074G>A (p.Lys358=)
NM_033028.5(BBS4):c.1086A>G (p.Ala362=)
NM_033028.5(BBS4):c.1092A>T (p.Ala364=)
NM_033028.5(BBS4):c.1095C>A (p.Val365=)
NM_033028.5(BBS4):c.1101G>A (p.Leu367=)
NM_033028.5(BBS4):c.1101G>T (p.Leu367=)
NM_033028.5(BBS4):c.1106+11T>G
NM_033028.5(BBS4):c.1106+17G>A rs1485932268
NM_033028.5(BBS4):c.1106+7A>C
NM_033028.5(BBS4):c.1106+7A>G
NM_033028.5(BBS4):c.1107-13C>T
NM_033028.5(BBS4):c.1107-17A>G
NM_033028.5(BBS4):c.1107-9C>G
NM_033028.5(BBS4):c.1134T>C (p.Tyr378=)
NM_033028.5(BBS4):c.1143G>A (p.Leu381=)
NM_033028.5(BBS4):c.1146G>A (p.Leu382=)
NM_033028.5(BBS4):c.1173C>T (p.Ala391=)
NM_033028.5(BBS4):c.1185T>C (p.Tyr395=)
NM_033028.5(BBS4):c.1191G>A (p.Glu397=)
NM_033028.5(BBS4):c.1209C>T (p.Ser403=)
NM_033028.5(BBS4):c.1224T>C (p.Asn408=)
NM_033028.5(BBS4):c.1227C>T (p.Ser409=)
NM_033028.5(BBS4):c.1248+18T>G
NM_033028.5(BBS4):c.1249-11G>A
NM_033028.5(BBS4):c.1249-15C>A
NM_033028.5(BBS4):c.1249-5A>C
NM_033028.5(BBS4):c.1249-8dup rs1419777878
NM_033028.5(BBS4):c.1254G>A (p.Val418=)
NM_033028.5(BBS4):c.1254G>C (p.Val418=)
NM_033028.5(BBS4):c.1263T>G (p.Ala421=)
NM_033028.5(BBS4):c.1278T>A (p.Ala426=)
NM_033028.5(BBS4):c.1287G>A (p.Gln429=)
NM_033028.5(BBS4):c.1296G>A (p.Glu432=)
NM_033028.5(BBS4):c.1299A>G (p.Ala433=)
NM_033028.5(BBS4):c.1300C>T (p.Leu434=)
NM_033028.5(BBS4):c.1302G>C (p.Leu434=)
NM_033028.5(BBS4):c.1317A>G (p.Pro439=)
NM_033028.5(BBS4):c.1320T>C (p.Val440=)
NM_033028.5(BBS4):c.1329C>G (p.Pro443=)
NM_033028.5(BBS4):c.1347C>G (p.Thr449=)
NM_033028.5(BBS4):c.1347C>T (p.Thr449=) rs779876012
NM_033028.5(BBS4):c.1356C>T (p.Thr452=)
NM_033028.5(BBS4):c.1377G>A (p.Gln459=)
NM_033028.5(BBS4):c.1450+11A>G
NM_033028.5(BBS4):c.1450+12C>G
NM_033028.5(BBS4):c.1450+17_1450+22del
NM_033028.5(BBS4):c.1450+7C>T
NM_033028.5(BBS4):c.1450+9A>G
NM_033028.5(BBS4):c.1451-14T>C
NM_033028.5(BBS4):c.1451-20A>C
NM_033028.5(BBS4):c.1451-20A>G
NM_033028.5(BBS4):c.1451-4C>T
NM_033028.5(BBS4):c.1451-6dup rs770389663
NM_033028.5(BBS4):c.1451-7T>A
NM_033028.5(BBS4):c.1463C>A (p.Thr488Lys) rs561284402
NM_033028.5(BBS4):c.1494T>G (p.Pro498=) rs1186383384
NM_033028.5(BBS4):c.1515G>A (p.Val505=) rs2151058394
NM_033028.5(BBS4):c.1536A>G (p.Thr512=)
NM_033028.5(BBS4):c.1542A>G (p.Glu514=)
NM_033028.5(BBS4):c.1545A>G (p.Gln515=)
NM_033028.5(BBS4):c.1554G>A (p.Glu518=)
NM_033028.5(BBS4):c.1557A>G (p.Lys519=)
NM_033028.5(BBS4):c.156+10T>G
NM_033028.5(BBS4):c.156+12C>T
NM_033028.5(BBS4):c.156+14A>G
NM_033028.5(BBS4):c.156+9T>C rs749530632
NM_033028.5(BBS4):c.157-12T>G
NM_033028.5(BBS4):c.157-13C>T
NM_033028.5(BBS4):c.157-15T>G
NM_033028.5(BBS4):c.157-20C>G rs2151019478
NM_033028.5(BBS4):c.157-4T>C
NM_033028.5(BBS4):c.157-6T>C
NM_033028.5(BBS4):c.157-9C>G
NM_033028.5(BBS4):c.157-9C>T
NM_033028.5(BBS4):c.174G>A (p.Gln58=)
NM_033028.5(BBS4):c.181G>A (p.Glu61Lys) rs1251827333
NM_033028.5(BBS4):c.189G>A (p.Gln63=) rs1447098604
NM_033028.5(BBS4):c.18C>A (p.Val6=)
NM_033028.5(BBS4):c.192A>T (p.Gly64=)
NM_033028.5(BBS4):c.210C>A (p.Ile70=)
NM_033028.5(BBS4):c.216C>T (p.Val72=)
NM_033028.5(BBS4):c.220+10A>G
NM_033028.5(BBS4):c.220+16_220+18del rs2151019680
NM_033028.5(BBS4):c.221-14C>T
NM_033028.5(BBS4):c.221-20T>C
NM_033028.5(BBS4):c.223T>C (p.Leu75=)
NM_033028.5(BBS4):c.237A>G (p.Leu79=)
NM_033028.5(BBS4):c.24+11A>T
NM_033028.5(BBS4):c.24+16C>T
NM_033028.5(BBS4):c.24+17T>C
NM_033028.5(BBS4):c.24+18C>T
NM_033028.5(BBS4):c.24+18_24+19del
NM_033028.5(BBS4):c.24+8C>A
NM_033028.5(BBS4):c.243A>G (p.Gly81=) rs2151023302
NM_033028.5(BBS4):c.246T>C (p.Asn82=)
NM_033028.5(BBS4):c.25-16A>G
NM_033028.5(BBS4):c.258C>A (p.Ser86=)
NM_033028.5(BBS4):c.261A>G (p.Leu87=)
NM_033028.5(BBS4):c.267C>T (p.Leu89=)
NM_033028.5(BBS4):c.276A>C (p.Thr92=)
NM_033028.5(BBS4):c.306T>C (p.Asp102=) rs886706996
NM_033028.5(BBS4):c.332+14A>T rs980205433
NM_033028.5(BBS4):c.332+16del
NM_033028.5(BBS4):c.333-10T>C
NM_033028.5(BBS4):c.333-12T>C
NM_033028.5(BBS4):c.333-15A>C
NM_033028.5(BBS4):c.333-18A>G rs760730921
NM_033028.5(BBS4):c.333-20G>C
NM_033028.5(BBS4):c.333-9C>A
NM_033028.5(BBS4):c.340T>C (p.Leu114=)
NM_033028.5(BBS4):c.342G>A (p.Leu114=)
NM_033028.5(BBS4):c.348A>G (p.Lys116=)
NM_033028.5(BBS4):c.354A>G (p.Lys118=)
NM_033028.5(BBS4):c.360C>T (p.Ala120=)
NM_033028.5(BBS4):c.369A>G (p.Val123=)
NM_033028.5(BBS4):c.39T>G (p.Pro13=) rs990984115
NM_033028.5(BBS4):c.406-16T>C
NM_033028.5(BBS4):c.406-4C>T rs2151032476
NM_033028.5(BBS4):c.456C>T (p.Asn152=)
NM_033028.5(BBS4):c.459+13A>G
NM_033028.5(BBS4):c.459+15T>A
NM_033028.5(BBS4):c.460-15T>C
NM_033028.5(BBS4):c.465A>G (p.Gln155=)
NM_033028.5(BBS4):c.472T>C (p.Leu158=)
NM_033028.5(BBS4):c.489T>C (p.Asn163=)
NM_033028.5(BBS4):c.48T>A (p.Thr16=)
NM_033028.5(BBS4):c.48T>G (p.Thr16=)
NM_033028.5(BBS4):c.495T>C (p.Asn165=)
NM_033028.5(BBS4):c.507G>A (p.Leu169=)
NM_033028.5(BBS4):c.507G>T (p.Leu169=)
NM_033028.5(BBS4):c.520C>T (p.Leu174=)
NM_033028.5(BBS4):c.531C>T (p.Ile177=) rs2065634194
NM_033028.5(BBS4):c.534C>T (p.His178=)
NM_033028.5(BBS4):c.549C>T (p.Asp183=)
NM_033028.5(BBS4):c.555C>T (p.Asp185=) rs2151034397
NM_033028.5(BBS4):c.570C>G (p.Val190=)
NM_033028.5(BBS4):c.573C>T (p.Tyr191=) rs781012019
NM_033028.5(BBS4):c.57A>G (p.Gln19=)
NM_033028.5(BBS4):c.587+16T>A
NM_033028.5(BBS4):c.587+17C>A rs2151034479
NM_033028.5(BBS4):c.587+17_587+21del
NM_033028.5(BBS4):c.588-13C>T rs2151041174
NM_033028.5(BBS4):c.588-14T>C
NM_033028.5(BBS4):c.588-16C>T
NM_033028.5(BBS4):c.588-17G>T rs1023807138
NM_033028.5(BBS4):c.588-4G>T
NM_033028.5(BBS4):c.588-9_588-8del
NM_033028.5(BBS4):c.633C>G (p.Leu211=)
NM_033028.5(BBS4):c.636C>T (p.Tyr212=) rs1239795042
NM_033028.5(BBS4):c.642+11C>T
NM_033028.5(BBS4):c.642+12T>C
NM_033028.5(BBS4):c.642+13_642+14del
NM_033028.5(BBS4):c.642+14T>A
NM_033028.5(BBS4):c.642+14_642+20del rs886038705
NM_033028.5(BBS4):c.642+15_642+16del
NM_033028.5(BBS4):c.642+20C>T
NM_033028.5(BBS4):c.643-11T>C
NM_033028.5(BBS4):c.643-19T>C
NM_033028.5(BBS4):c.66G>A (p.Arg22=)
NM_033028.5(BBS4):c.6T>G (p.Ala2=)
NM_033028.5(BBS4):c.711+12TG[3] rs2065774442
NM_033028.5(BBS4):c.711+13del
NM_033028.5(BBS4):c.711+8A>T
NM_033028.5(BBS4):c.712-10A>G
NM_033028.5(BBS4):c.712-13G>A
NM_033028.5(BBS4):c.712-15G>C rs2065814889
NM_033028.5(BBS4):c.726A>G (p.Ala242=) rs1567429245
NM_033028.5(BBS4):c.732C>T (p.Ser244=)
NM_033028.5(BBS4):c.744C>T (p.Thr248=)
NM_033028.5(BBS4):c.750G>A (p.Gly250=)
NM_033028.5(BBS4):c.76+10C>T
NM_033028.5(BBS4):c.76+16C>T
NM_033028.5(BBS4):c.76+17A>G
NM_033028.5(BBS4):c.76+19G>C
NM_033028.5(BBS4):c.76+7A>G rs2150997373
NM_033028.5(BBS4):c.77-17C>T rs2151016110
NM_033028.5(BBS4):c.77-4C>T
NM_033028.5(BBS4):c.789T>C (p.Ala263=)
NM_033028.5(BBS4):c.78T>A (p.Ala26=) rs2065330472
NM_033028.5(BBS4):c.837T>C (p.Cys279=)
NM_033028.5(BBS4):c.84G>A (p.Glu28=)
NM_033028.5(BBS4):c.858T>C (p.Tyr286=)
NM_033028.5(BBS4):c.861G>A (p.Val287=)
NM_033028.5(BBS4):c.861G>T (p.Val287=) rs1595947650
NM_033028.5(BBS4):c.864+20C>T rs753099644
NM_033028.5(BBS4):c.864+20_864+23del
NM_033028.5(BBS4):c.864+7G>A
NM_033028.5(BBS4):c.865-13T>C rs371241518
NM_033028.5(BBS4):c.865-16C>G
NM_033028.5(BBS4):c.865-5C>G rs2151047807
NM_033028.5(BBS4):c.865-5C>T
NM_033028.5(BBS4):c.870C>T (p.Ile290=)
NM_033028.5(BBS4):c.879G>T (p.Leu293=) rs2151047861
NM_033028.5(BBS4):c.885A>C (p.Arg295=)
NM_033028.5(BBS4):c.894C>T (p.Tyr298=)
NM_033028.5(BBS4):c.921G>A (p.Leu307=)
NM_033028.5(BBS4):c.921G>C (p.Leu307=)
NM_033028.5(BBS4):c.927T>C (p.Asn309=)
NM_033028.5(BBS4):c.939C>T (p.Val313=)
NM_033028.5(BBS4):c.943T>C (p.Leu315=) rs1433729329
NM_033028.5(BBS4):c.94T>C (p.Leu32=) rs771325848
NM_033028.5(BBS4):c.984T>C (p.Ser328=)
NM_033028.5(BBS4):c.99G>A (p.Glu33=)
NM_033028.5(BBS4):c.9G>A (p.Glu3=)

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