ClinVar Miner

List of variants studied for MKKS-related ciliopathy by Baylor Genetics

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_170784.3(MKKS):c.1161+3A>G rs192968747 0.00036
NM_170784.3(MKKS):c.250C>T (p.His84Tyr) rs281797258 0.00025
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.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu) rs779116830 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.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
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr) rs147704542 0.00001
NM_170784.3(MKKS):c.1192C>T (p.Gln398Ter)
NM_170784.3(MKKS):c.1353del (p.Phe450_Cys451insTer)
NM_170784.3(MKKS):c.1354_1358del (p.Ser452fs)
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
NM_170784.3(MKKS):c.1470G>A (p.Trp490Ter)
NM_170784.3(MKKS):c.1486C>T (p.Gln496Ter)
NM_170784.3(MKKS):c.1529G>A (p.Trp510Ter)
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter) rs1334961999
NM_170784.3(MKKS):c.182C>G (p.Ser61Ter)
NM_170784.3(MKKS):c.187_188dup (p.Leu64fs)
NM_170784.3(MKKS):c.221T>G (p.Leu74Ter)
NM_170784.3(MKKS):c.252del (p.His84fs)
NM_170784.3(MKKS):c.257C>A (p.Ser86Ter)
NM_170784.3(MKKS):c.348del (p.Ile117fs)
NM_170784.3(MKKS):c.383_391delinsG (p.Ile128fs)
NM_170784.3(MKKS):c.40_41del (p.Lys13_Ser14insTer)
NM_170784.3(MKKS):c.432_435del (p.Phe144fs) rs1225932577
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.611del (p.Pro203_Leu204insTer)
NM_170784.3(MKKS):c.619C>T (p.Gln207Ter)
NM_170784.3(MKKS):c.619del (p.Gln207fs)
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.732_733del (p.Phe244fs)
NM_170784.3(MKKS):c.775del (p.Thr259fs) rs759131391
NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter) rs74315397
NM_170784.3(MKKS):c.844C>T (p.Gln282Ter)
NM_170784.3(MKKS):c.845dup (p.Leu283fs) rs1555801973
NM_170784.3(MKKS):c.867dup (p.Leu290fs) rs2122234051
NM_170784.3(MKKS):c.871G>T (p.Val291Phe)
NM_170784.3(MKKS):c.883A>T (p.Lys295Ter)
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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