ClinVar Miner

List of variants in gene MKKS reported as uncertain significance for McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6

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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
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.1028G>A (p.Ser343Asn) rs558813240 0.00016
NM_170784.3(MKKS):c.697A>C (p.Ile233Leu) rs141201812 0.00016
NM_170784.3(MKKS):c.1625T>G (p.Leu542Trp) rs372944937 0.00014
NM_170784.3(MKKS):c.1457G>A (p.Cys486Tyr) rs375952682 0.00012
NM_170784.3(MKKS):c.926G>A (p.Arg309His) rs199939179 0.00010
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.629T>C (p.Ile210Thr) rs201243884 0.00008
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.1511G>A (p.Ser504Asn) rs776107451 0.00004
NM_170784.3(MKKS):c.35G>A (p.Cys12Tyr) rs368277209 0.00004
NM_170784.3(MKKS):c.7C>T (p.Arg3Cys) rs779042065 0.00004
NM_170784.3(MKKS):c.862G>A (p.Val288Ile) rs113032343 0.00004
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.923A>G (p.His308Arg) rs967873180 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.1075C>T (p.His359Tyr) rs1414454066 0.00001
NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe) rs1029793006 0.00001
NM_170784.3(MKKS):c.1280A>G (p.Asn427Ser) rs776235071 0.00001
NM_170784.3(MKKS):c.130A>C (p.Lys44Gln) rs2064910872 0.00001
NM_170784.3(MKKS):c.146G>T (p.Gly49Val) rs528833454 0.00001
NM_170784.3(MKKS):c.31T>A (p.Leu11Met) rs1443376346 0.00001
NM_170784.3(MKKS):c.364C>T (p.His122Tyr) rs148221053 0.00001
NM_170784.3(MKKS):c.512C>G (p.Thr171Arg) rs1303349629 0.00001
NM_170784.3(MKKS):c.803T>G (p.Leu268Arg) rs375902906 0.00001
NM_170784.3(MKKS):c.834C>G (p.Asn278Lys) rs575896442 0.00001
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr) rs147704542 0.00001
NM_170784.3(MKKS):c.917A>G (p.Asn306Ser) rs1412422841 0.00001
NM_170784.3(MKKS):c.947T>C (p.Ile316Thr) rs370219365 0.00001
NM_170784.3(MKKS):c.1051T>C (p.Cys351Arg)
NM_170784.3(MKKS):c.1097A>G (p.Asn366Ser)
NM_170784.3(MKKS):c.109T>C (p.Tyr37His)
NM_170784.3(MKKS):c.1111T>A (p.Cys371Ser) rs144892179
NM_170784.3(MKKS):c.1130A>C (p.Asn377Thr)
NM_170784.3(MKKS):c.1161+5G>A
NM_170784.3(MKKS):c.1272+10A>G
NM_170784.3(MKKS):c.1279A>G (p.Asn427Asp)
NM_170784.3(MKKS):c.1304A>T (p.Asp435Val)
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly) rs746696111
NM_170784.3(MKKS):c.1426C>T (p.His476Tyr)
NM_170784.3(MKKS):c.1447G>T (p.Asp483Tyr)
NM_170784.3(MKKS):c.1462_1463delinsAT (p.Ala488Ile) rs1568662701
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_170784.3(MKKS):c.1487A>G (p.Gln496Arg)
NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr) rs2122219712
NM_170784.3(MKKS):c.14A>C (p.Glu5Ala)
NM_170784.3(MKKS):c.1550G>A (p.Arg517His)
NM_170784.3(MKKS):c.1571G>A (p.Ser524Asn)
NM_170784.3(MKKS):c.1576C>A (p.Leu526Ile) rs1239900206
NM_170784.3(MKKS):c.1582_1587del (p.His528_Glu529del) rs2122219438
NM_170784.3(MKKS):c.160G>A (p.Val54Met)
NM_170784.3(MKKS):c.1613C>A (p.Thr538Asn)
NM_170784.3(MKKS):c.1639A>G (p.Ser547Gly) rs149095209
NM_170784.3(MKKS):c.1643G>A (p.Gly548Asp)
NM_170784.3(MKKS):c.206T>C (p.Val69Ala)
NM_170784.3(MKKS):c.235G>A (p.Ala79Thr)
NM_170784.3(MKKS):c.302A>T (p.Asn101Ile) rs776936558
NM_170784.3(MKKS):c.314A>G (p.Asn105Ser)
NM_170784.3(MKKS):c.32T>C (p.Leu11Ser)
NM_170784.3(MKKS):c.406T>C (p.Cys136Arg)
NM_170784.3(MKKS):c.460G>C (p.Val154Leu)
NM_170784.3(MKKS):c.462G>A (p.Val154=)
NM_170784.3(MKKS):c.46C>A (p.Pro16Thr)
NM_170784.3(MKKS):c.475A>T (p.Thr159Ser)
NM_170784.3(MKKS):c.538A>G (p.Arg180Gly) rs1331122376
NM_170784.3(MKKS):c.629T>G (p.Ile210Arg)
NM_170784.3(MKKS):c.658A>G (p.Ile220Val)
NM_170784.3(MKKS):c.658A>T (p.Ile220Phe)
NM_170784.3(MKKS):c.721G>T (p.Val241Leu)
NM_170784.3(MKKS):c.79T>G (p.Ser27Ala)
NM_170784.3(MKKS):c.812C>T (p.Ala271Val) rs772754363
NM_170784.3(MKKS):c.843G>C (p.Arg281Ser)
NM_170784.3(MKKS):c.868C>G (p.Leu290Val)
NM_170784.3(MKKS):c.952G>A (p.Val318Met)
NM_170784.3(MKKS):c.986G>T (p.Gly329Val)

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