ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome; McKusick-Kaufman syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_170784.3(MKKS):c.250C>T (p.His84Tyr) rs281797258 0.00025
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg) rs766132697 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_170784.3(MKKS):c.1239_1242dup (p.Thr415Ter) rs1306231185 0.00001
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter) rs753180214 0.00001
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp) rs28937875 0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala) rs74315399 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.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 0.00001
NC_000020.10:g.(?_10385895)_(10394162_?)del
NC_000020.11:g.(?_10405227)_(10413534_?)del
NM_170784.3(MKKS):c.1013C>A (p.Ser338Ter) rs2122226112
NM_170784.3(MKKS):c.1118del (p.Leu373fs)
NM_170784.3(MKKS):c.1148G>A (p.Trp383Ter)
NM_170784.3(MKKS):c.1149G>A (p.Trp383Ter)
NM_170784.3(MKKS):c.1181del (p.Leu394fs) rs2122223967
NM_170784.3(MKKS):c.1190del (p.Leu397fs)
NM_170784.3(MKKS):c.1196T>G (p.Leu399Ter)
NM_170784.3(MKKS):c.1225_1226del (p.Gly409fs) rs1421664374
NM_170784.3(MKKS):c.1272+1G>A rs755716827
NM_170784.3(MKKS):c.1272+2T>C
NM_170784.3(MKKS):c.1291_1337del (p.Ser431fs) rs2122220131
NM_170784.3(MKKS):c.134del (p.Gln45fs)
NM_170784.3(MKKS):c.1351dup (p.Cys451fs)
NM_170784.3(MKKS):c.1368del (p.Val457fs)
NM_170784.3(MKKS):c.13G>T (p.Glu5Ter)
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
NM_170784.3(MKKS):c.172_175dup (p.Gln59fs) rs1600849412
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter) rs1334961999
NM_170784.3(MKKS):c.175_176del (p.Gln59fs) rs2122236167
NM_170784.3(MKKS):c.221T>G (p.Leu74Ter)
NM_170784.3(MKKS):c.221del (p.Ile73_Leu74insTer)
NM_170784.3(MKKS):c.257C>A (p.Ser86Ter)
NM_170784.3(MKKS):c.281del (p.Phe94fs) rs587777827
NM_170784.3(MKKS):c.2T>A (p.Met1Lys)
NM_170784.3(MKKS):c.2T>G (p.Met1Arg)
NM_170784.3(MKKS):c.36dup (p.Lys13Ter)
NM_170784.3(MKKS):c.372_373insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAACATCTTTTG (p.Ser125delinsAlaGlyArgGlyGlySerArgLeuTer)
NM_170784.3(MKKS):c.375_381dup (p.Ile128fs) rs2122235619
NM_170784.3(MKKS):c.432_435del (p.Phe144fs) rs1225932577
NM_170784.3(MKKS):c.432dup (p.Ser145Ter)
NM_170784.3(MKKS):c.456_459del (p.Cys152fs)
NM_170784.3(MKKS):c.47del (p.Pro16fs) rs1224308508
NM_170784.3(MKKS):c.515_516del (p.Glu172fs) rs2064904675
NM_170784.3(MKKS):c.63_64del (p.Arg21fs) rs754066841
NM_170784.3(MKKS):c.676C>T (p.Gln226Ter) rs2122234652
NM_170784.3(MKKS):c.732_733del (p.Phe244fs)
NM_170784.3(MKKS):c.763dup (p.Thr255fs) rs2122234387
NM_170784.3(MKKS):c.867dup (p.Leu290fs) rs2122234051
NM_170784.3(MKKS):c.885dup (p.Val296fs)
NM_170784.3(MKKS):c.889dup (p.Ile297fs) rs2122233990
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.958_959del (p.Leu320fs) rs770908659
NM_170784.3(MKKS):c.966del (p.Glu322fs)
NM_170784.3(MKKS):c.97del (p.Ile32_Val33insTer) rs2122236468

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