ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 6

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys) rs1547 0.14159
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_170784.3(MKKS):c.*435G>A rs6108549 0.14136
NM_170784.3(MKKS):c.*392T>C rs2294901 0.14121
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_170784.3(MKKS):c.*38A>G rs79940214 0.02456
NM_170784.3(MKKS):c.*46G>T rs74703166 0.02454
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr) rs61734546 0.01201
NM_170784.3(MKKS):c.-58T>C rs114068950 0.00943
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905 0.00508
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_001394148.2(LOC128706665):c.*87A>G rs140884406 0.00358
NM_170784.3(MKKS):c.-159A>G rs566532177 0.00137
NM_170784.3(MKKS):c.-384C>T rs568811798 0.00099
NM_170784.3(MKKS):c.-618C>T rs146473397 0.00078
NM_170784.3(MKKS):c.15A>G (p.Glu5=) rs145396188 0.00074
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395 0.00068
NM_001394148.2(LOC128706665):c.132T>G (p.Ile44Met) rs554863155 0.00064
NM_001394148.2(LOC128706665):c.133C>A (p.Pro45Thr) rs536112369 0.00064
NM_001394148.2(LOC128706665):c.71A>G (p.His24Arg) rs145467994 0.00041
NM_170784.3(MKKS):c.1161+3A>G rs192968747 0.00036
NM_170784.3(MKKS):c.231G>A (p.Leu77=) rs373913834 0.00035
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986 0.00031
NM_001394148.2(LOC128706665):c.*130A>G rs3748466 0.00028
NM_170784.3(MKKS):c.250C>T (p.His84Tyr) rs281797258 0.00025
NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys) rs147882975 0.00022
NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys) rs149626732 0.00021
NM_170784.3(MKKS):c.59A>G (p.Glu20Gly) rs199553497 0.00020
NM_170784.3(MKKS):c.*112C>T rs551220022 0.00017
NM_170784.3(MKKS):c.-477G>T rs886056501 0.00016
NM_170784.3(MKKS):c.1028G>A (p.Ser343Asn) rs558813240 0.00016
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_170784.3(MKKS):c.1625T>G (p.Leu542Trp) rs372944937 0.00014
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_170784.3(MKKS):c.926G>A (p.Arg309His) rs199939179 0.00010
NM_170784.3(MKKS):c.*21A>G rs532973454 0.00009
NM_170784.3(MKKS):c.1246C>A (p.His416Asn) rs148800011 0.00008
NM_170784.3(MKKS):c.1294A>T (p.Ile432Phe) rs374485160 0.00008
NM_170784.3(MKKS):c.1356T>C (p.Ser452=) rs201977053 0.00008
NM_170784.3(MKKS):c.629T>C (p.Ile210Thr) rs201243884 0.00008
NM_170784.3(MKKS):c.*460T>C rs886056496 0.00006
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg) rs766132697 0.00006
NM_170784.3(MKKS):c.281T>G (p.Phe94Cys) rs141181516 0.00006
NM_170784.3(MKKS):c.35G>A (p.Cys12Tyr) rs368277209 0.00006
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro) rs201785599 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_170784.3(MKKS):c.874C>T (p.Leu292=) rs758645426 0.00005
NM_170784.3(MKKS):c.463C>T (p.Arg155Cys) rs755050269 0.00004
NM_001394148.2(LOC128706665):c.-22+2430T>G rs377246386 0.00003
NM_170784.3(MKKS):c.1067G>T (p.Gly356Val) rs745728640 0.00003
NM_170784.3(MKKS):c.464G>A (p.Arg155His) rs138111422 0.00003
NM_170784.3(MKKS):c.822C>T (p.Asp274=) rs761342904 0.00003
NM_170784.3(MKKS):c.1085A>G (p.His362Arg) rs373858682 0.00002
NM_170784.3(MKKS):c.1282G>A (p.Asp428Asn) rs779416496 0.00002
NM_170784.3(MKKS):c.1318C>G (p.Gln440Glu) rs772537800 0.00002
NM_170784.3(MKKS):c.363A>C (p.Lys121Asn) rs745313480 0.00002
NM_170784.3(MKKS):c.*103A>G rs965771888 0.00001
NM_170784.3(MKKS):c.-22A>C rs531656259 0.00001
NM_170784.3(MKKS):c.-388A>G rs945662294 0.00001
NM_170784.3(MKKS):c.-481T>A rs886056502 0.00001
NM_170784.3(MKKS):c.-562C>T rs886056503 0.00001
NM_170784.3(MKKS):c.-649+2366C>T rs886056504 0.00001
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu) rs779116830 0.00001
NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr) rs1401483166 0.00001
NM_170784.3(MKKS):c.1075C>T (p.His359Tyr) rs1414454066 0.00001
NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe) rs1029793006 0.00001
NM_170784.3(MKKS):c.119C>G (p.Ser40Ter) rs753338844 0.00001
NM_170784.3(MKKS):c.1269C>T (p.His423=) rs144313303 0.00001
NM_170784.3(MKKS):c.1360C>T (p.Leu454=) rs1210784201 0.00001
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter) rs753180214 0.00001
NM_170784.3(MKKS):c.146G>T (p.Gly49Val) rs528833454 0.00001
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp) rs28937875 0.00001
NM_170784.3(MKKS):c.1645C>T (p.Leu549=) rs1010755325 0.00001
NM_170784.3(MKKS):c.1695T>C (p.Val565=) rs554395344 0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala) rs74315399 0.00001
NM_170784.3(MKKS):c.210A>C (p.Thr70=) rs1471154105 0.00001
NM_170784.3(MKKS):c.251_252del (p.His84fs) rs756259125 0.00001
NM_170784.3(MKKS):c.29C>A (p.Ser10Ter) rs758356262 0.00001
NM_170784.3(MKKS):c.380del (p.Cys127fs) rs867346158 0.00001
NM_170784.3(MKKS):c.415C>T (p.Arg139Ter) rs142394051 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 0.00001
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr) rs147704542 0.00001
NM_170784.3(MKKS):c.986-1G>A rs200633158 0.00001
NM_170784.3(MKKS):c.-159A>C rs566532177
NM_170784.3(MKKS):c.-21C>G rs886056498
NM_170784.3(MKKS):c.-39A>C rs886056499
NM_170784.3(MKKS):c.-406G>C rs886056500
NM_170784.3(MKKS):c.-41_985+60del
NM_170784.3(MKKS):c.-649+2238A>T rs541967798
NM_170784.3(MKKS):c.109T>C (p.Tyr37His)
NM_170784.3(MKKS):c.1162-12del rs781066396
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu) rs1270369106
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly) rs746696111
NM_170784.3(MKKS):c.1307A>T (p.Asp436Val) rs746696111
NM_170784.3(MKKS):c.1353del (p.Phe450_Cys451insTer)
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_170784.3(MKKS):c.1486C>T (p.Gln496Ter)
NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr) rs2122219712
NM_170784.3(MKKS):c.14A>C (p.Glu5Ala)
NM_170784.3(MKKS):c.1598C>T (p.Ser533Leu) rs2064834350
NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser) rs554429487
NM_170784.3(MKKS):c.1702G>C (p.Asp568His) rs886056497
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter) rs1334961999
NM_170784.3(MKKS):c.180C>T (p.Ser60=) rs2064909876
NM_170784.3(MKKS):c.182C>G (p.Ser61Ter)
NM_170784.3(MKKS):c.187_188dup (p.Leu64fs)
NM_170784.3(MKKS):c.207C>T (p.Val69=) rs1382659817
NM_170784.3(MKKS):c.221T>G (p.Leu74Ter)
NM_170784.3(MKKS):c.281del (p.Phe94fs) rs587777827
NM_170784.3(MKKS):c.302A>T (p.Asn101Ile) rs776936558
NM_170784.3(MKKS):c.329G>T (p.Gly110Val) rs2064907691
NM_170784.3(MKKS):c.383_391delinsG (p.Ile128fs)
NM_170784.3(MKKS):c.40_41del (p.Lys13_Ser14insTer)
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362
NM_170784.3(MKKS):c.432del (p.Phe144fs)
NM_170784.3(MKKS):c.432dup (p.Ser145Ter)
NM_170784.3(MKKS):c.515_516del (p.Glu172fs) rs2064904675
NM_170784.3(MKKS):c.538A>G (p.Arg180Gly) rs1331122376
NM_170784.3(MKKS):c.611del (p.Pro203_Leu204insTer)
NM_170784.3(MKKS):c.613A>T (p.Lys205Ter) rs1555802009
NM_170784.3(MKKS):c.619C>T (p.Gln207Ter)
NM_170784.3(MKKS):c.61A>T (p.Arg21Ter)
NM_170784.3(MKKS):c.63_64del (p.Arg21fs) rs754066841
NM_170784.3(MKKS):c.668C>A (p.Ser223Ter)
NM_170784.3(MKKS):c.717C>T (p.Leu239=) rs1214711344
NM_170784.3(MKKS):c.732_733del (p.Phe244fs)
NM_170784.3(MKKS):c.775del (p.Thr259fs) rs759131391
NM_170784.3(MKKS):c.792T>A (p.Tyr264Ter) rs74315397
NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter) rs74315397
NM_170784.3(MKKS):c.812C>T (p.Ala271Val) rs772754363
NM_170784.3(MKKS):c.82G>C (p.Val28Leu) rs368653529
NM_170784.3(MKKS):c.845dup (p.Leu283fs) rs1555801973
NM_170784.3(MKKS):c.871G>T (p.Val291Phe)
NM_170784.3(MKKS):c.886del (p.Val296fs)
NM_170784.3(MKKS):c.940_941del (p.Asp314fs) rs2064897670
NM_170784.3(MKKS):c.942_945del (p.Asp314fs)
NM_170784.3(MKKS):c.950_960del (p.Gly317fs)
NM_170784.3(MKKS):c.966del (p.Glu322fs)

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