ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome by Counsyl

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP
NM_001165927.1(MKS1):c.1033A>G (p.Thr345Ala) rs745809472
NM_001165927.1(MKS1):c.1046_1048CCA[1] (p.Thr350del) rs1555598065
NM_001165927.1(MKS1):c.1145C>T (p.Pro382Leu) rs763534380
NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu) rs773684291
NM_001165927.1(MKS1):c.1238C>T (p.Thr413Ile) rs760184188
NM_001165927.1(MKS1):c.1258_1284del (p.Thr420_Glu428del) rs1555597302
NM_001165927.1(MKS1):c.1301_1315del (p.Glu434_Phe439delinsVal) rs1555597266
NM_001165927.1(MKS1):c.1352A>G (p.Tyr451Cys) rs730882120
NM_001165927.1(MKS1):c.1377+3_1377+5delinsAAT rs1555597194
NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) rs137853105
NM_001165927.1(MKS1):c.1467del (p.Phe489fs) rs780161503
NM_001165927.1(MKS1):c.1501_1504del (p.Ser501fs) rs1555596710
NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys) rs775558298
NM_001165927.1(MKS1):c.1570C>T (p.Arg524Ter) rs772719574
NM_001165927.1(MKS1):c.1579C>T (p.Arg527Cys) rs35464956
NM_001165927.1(MKS1):c.1584del (p.Met529fs) rs1555596555
NM_001165927.1(MKS1):c.1591G>T (p.Glu531Ter) rs1555596538
NM_001165927.1(MKS1):c.184G>A (p.Glu62Lys) rs753620277
NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser) rs786204222
NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys) rs779953982
NM_001165927.1(MKS1):c.50+198_50+220del rs1244307754
NM_001165927.1(MKS1):c.793_795GAG[5] (p.Glu268dup) rs780100856
NM_001165927.1(MKS1):c.80A>G (p.Asn27Ser) rs587779734
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_024649.5(BBS1):c.*10T>A rs765633556
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly) rs1555048530
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) rs758139447
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304
NM_024649.5(BBS1):c.1631T>A (p.Leu544His) rs1555050401
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal) rs1555050422
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.664G>C (p.Gly222Arg) rs761760689
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg) rs1555048487
NM_024685.4(BBS10):c.1003_1005TCA[1] (p.Ser336del) rs1555202655
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro) rs137852836
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe) rs775492103
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp) rs375746803
NM_024685.4(BBS10):c.1337_1342del (p.Phe446_Ile447del) rs767108821
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925
NM_024685.4(BBS10):c.1807G>A (p.Gly603Ser) rs756523417
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641
NM_024685.4(BBS10):c.2030G>T (p.Gly677Val) rs1555202553
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro) rs759387000
NM_024685.4(BBS10):c.2T>C (p.Met1Thr) rs1382481529
NM_024685.4(BBS10):c.32T>G (p.Val11Gly) rs137852838
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys) rs1555202700
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_031885.3(BBS2):c.1528_1539del12 (p.Val510_Trp513del) rs1555521575
NM_031885.4(BBS2):c.1046T>G (p.Leu349Trp) rs752280639
NM_031885.4(BBS2):c.118G>T (p.Val40Phe) rs886043059
NM_031885.4(BBS2):c.1207C>T (p.Arg403Cys) rs766873519
NM_031885.4(BBS2):c.1523A>C (p.Gln508Pro) rs115328064
NM_031885.4(BBS2):c.1662C>G (p.Ile554Met) rs774112668
NM_031885.4(BBS2):c.1885G>A (p.Glu629Lys) rs746505864
NM_031885.4(BBS2):c.1891G>A (p.Ala631Thr) rs771822557
NM_031885.4(BBS2):c.1928G>A (p.Arg643His) rs532361142
NM_031885.4(BBS2):c.2043_2058dup (p.Val687fs) rs1555520212
NM_031885.4(BBS2):c.2143C>T (p.Arg715Ter) rs1555520107
NM_031885.4(BBS2):c.2166G>C (p.Ter722Tyr) rs1555520101
NM_031885.4(BBS2):c.241G>T (p.Gly81Cys) rs750506474
NM_031885.4(BBS2):c.334T>C (p.Phe112Leu) rs772864503
NM_031885.4(BBS2):c.365C>T (p.Ala122Val) rs17856449
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_031885.4(BBS2):c.471G>A (p.Thr157=) rs749983428
NM_031885.4(BBS2):c.691A>G (p.Lys231Glu) rs754487754
NM_031885.4(BBS2):c.730_732del (p.Ala244del) rs1171314440
NM_031885.4(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.4(BBS2):c.86C>T (p.Pro29Leu) rs771211831
NM_031885.4(BBS2):c.943C>T (p.Arg315Trp) rs121908178
NM_031885.4(BBS2):c.944G>A (p.Arg315Gln) rs544773389
NM_031885.4(BBS2):c.98C>A (p.Ala33Asp) rs797045155
NM_152618.3(BBS12):c.*484A>G rs886059060
NM_152618.3(BBS12):c.*803_*804insT rs1332628916
NM_152618.3(BBS12):c.*854C>A rs886059061
NM_152618.3(BBS12):c.1024_1026AAT[1] (p.Asn343del) rs1553941372
NM_152618.3(BBS12):c.1037T>C (p.Ile346Thr) rs1553941373
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471
NM_152618.3(BBS12):c.1198G>A (p.Val400Met) rs771136797
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr) rs886059058
NM_152618.3(BBS12):c.1418_1420del (p.Phe473del) rs1553941469
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly) rs772894742
NM_152618.3(BBS12):c.1507G>A (p.Val503Met) rs374865012
NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys) rs770746493
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549
NM_152618.3(BBS12):c.1616G>T (p.Gly539Val) rs755314355
NM_152618.3(BBS12):c.1619G>T (p.Gly540Val) rs1010403072
NM_152618.3(BBS12):c.1681_1683del (p.Glu561del) rs1490785954
NM_152618.3(BBS12):c.1932_1934TAG[1] (p.Ser645del) rs758008862
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490
NM_152618.3(BBS12):c.2074dup (p.Thr692fs) rs1553941623
NM_152618.3(BBS12):c.298_300GAA[1] (p.Glu101del) rs1553941223
NM_152618.3(BBS12):c.29_31del (p.Lys10del) rs1553941158
NM_152618.3(BBS12):c.31_33AGA[1] (p.Arg12del) rs752885483
NM_152618.3(BBS12):c.343_345del (p.Val115del) rs1553941232
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654
NM_152618.3(BBS12):c.629_631ACA[1] (p.Asn211del) rs1553941287
NM_152618.3(BBS12):c.652_653insCAA (p.Asn218_Ser219insThr) rs879118135
NM_152618.3(BBS12):c.787T>C (p.Tyr263His) rs150040166
NM_152618.3(BBS12):c.860_862AAG[1] (p.Glu288del) rs745504524

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