ClinVar Miner

List of variants reported as uncertain significance for MKKS-related ciliopathy

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
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.67A>G (p.Arg23Gly) rs147545395 0.00068
NM_170784.3(MKKS):c.-495C>A rs536112369 0.00064
NM_170784.3(MKKS):c.-496T>G rs554863155 0.00064
NM_170784.3(MKKS):c.-557A>G rs145467994 0.00041
NM_170784.3(MKKS):c.1161+3A>G rs192968747 0.00036
NM_170784.3(MKKS):c.-306A>G rs3748466 0.00028
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.1028G>A (p.Ser343Asn) rs558813240 0.00016
NM_170784.3(MKKS):c.697A>C (p.Ile233Leu) rs141201812 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.1457G>A (p.Cys486Tyr) rs375952682 0.00012
NM_170784.3(MKKS):c.311A>G (p.Glu104Gly) rs747959135 0.00012
NM_170784.3(MKKS):c.1129A>G (p.Asn377Asp) rs754207459 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.-477G>T rs886056501 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.629T>C (p.Ile210Thr) rs201243884 0.00008
NM_170784.3(MKKS):c.*460T>C rs886056496 0.00007
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg) rs766132697 0.00006
NM_170784.3(MKKS):c.1369G>A (p.Val457Ile) rs376038160 0.00006
NM_170784.3(MKKS):c.281T>G (p.Phe94Cys) rs141181516 0.00006
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro) rs201785599 0.00006
NM_170784.3(MKKS):c.1261A>G (p.Ile421Val) rs778950712 0.00005
NM_170784.3(MKKS):c.1454C>T (p.Pro485Leu) rs139509933 0.00005
NM_170784.3(MKKS):c.874C>T (p.Leu292=) rs758645426 0.00005
NM_170784.3(MKKS):c.1511G>A (p.Ser504Asn) rs776107451 0.00004
NM_170784.3(MKKS):c.202T>G (p.Leu68Val) rs200836375 0.00004
NM_170784.3(MKKS):c.35G>A (p.Cys12Tyr) rs368277209 0.00004
NM_170784.3(MKKS):c.463C>T (p.Arg155Cys) rs755050269 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.1161+4G>A rs761886025 0.00003
NM_170784.3(MKKS):c.1265G>A (p.Arg422Lys) rs754555322 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.1169G>A (p.Cys390Tyr) rs1361214616 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.554C>T (p.Thr185Ile) rs1321192032 0.00002
NM_170784.3(MKKS):c.871G>A (p.Val291Ile) rs910468710 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.1006C>G (p.Leu336Val) rs759986531 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.1106C>T (p.Thr369Ile) rs2064859757 0.00001
NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe) rs1029793006 0.00001
NM_170784.3(MKKS):c.1226G>T (p.Gly409Val) rs2064852512 0.00001
NM_170784.3(MKKS):c.1259A>G (p.Tyr420Cys) rs748071139 0.00001
NM_170784.3(MKKS):c.1269C>T (p.His423=) rs144313303 0.00001
NM_170784.3(MKKS):c.1274C>T (p.Thr425Ile) rs951838467 0.00001
NM_170784.3(MKKS):c.1280A>G (p.Asn427Ser) rs776235071 0.00001
NM_170784.3(MKKS):c.1291A>G (p.Ser431Gly) rs993196591 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.1505A>G (p.Tyr502Cys) rs749139446 0.00001
NM_170784.3(MKKS):c.1606A>G (p.Asn536Asp) rs1309710762 0.00001
NM_170784.3(MKKS):c.1645C>T (p.Leu549=) rs1010755325 0.00001
NM_170784.3(MKKS):c.307A>G (p.Ile103Val) rs771002171 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.430T>C (p.Phe144Leu) rs768539582 0.00001
NM_170784.3(MKKS):c.512C>G (p.Thr171Arg) rs1303349629 0.00001
NM_170784.3(MKKS):c.541G>A (p.Ala181Thr) rs1215659134 0.00001
NM_170784.3(MKKS):c.638C>G (p.Thr213Ser) rs780570415 0.00001
NM_170784.3(MKKS):c.709A>G (p.Thr237Ala) rs760185677 0.00001
NM_170784.3(MKKS):c.734G>A (p.Cys245Tyr) rs771767882 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.8G>A (p.Arg3His) rs770619894 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
NC_000020.10:g.(?_10256140)_(10654178_?)dup
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.-417-13dup rs528193828
NM_170784.3(MKKS):c.-649+2238A>T rs541967798
NM_170784.3(MKKS):c.-649+2292del rs566962031
NM_170784.3(MKKS):c.1015A>C (p.Ile339Leu)
NM_170784.3(MKKS):c.1037G>A (p.Ser346Asn)
NM_170784.3(MKKS):c.1051T>C (p.Cys351Arg)
NM_170784.3(MKKS):c.1073A>G (p.Lys358Arg) rs1455491260
NM_170784.3(MKKS):c.1088T>C (p.Leu363Pro) rs2064859899
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.1183C>T (p.His395Tyr)
NM_170784.3(MKKS):c.1189C>G (p.Leu397Val)
NM_170784.3(MKKS):c.1213T>C (p.Trp405Arg)
NM_170784.3(MKKS):c.1267C>T (p.His423Tyr) rs2122223791
NM_170784.3(MKKS):c.1272+10A>G
NM_170784.3(MKKS):c.1272+6T>C rs2064851919
NM_170784.3(MKKS):c.1279A>G (p.Asn427Asp)
NM_170784.3(MKKS):c.128T>G (p.Leu43Arg) rs1364157544
NM_170784.3(MKKS):c.1304A>T (p.Asp435Val)
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.1312T>G (p.Cys438Gly)
NM_170784.3(MKKS):c.1333T>A (p.Leu445Ile) rs754132134
NM_170784.3(MKKS):c.1334T>C (p.Leu445Ser) rs1057516054
NM_170784.3(MKKS):c.1372G>T (p.Val458Phe) rs1600843195
NM_170784.3(MKKS):c.1402A>G (p.Ile468Val)
NM_170784.3(MKKS):c.1426C>T (p.His476Tyr)
NM_170784.3(MKKS):c.1432T>A (p.Trp478Arg)
NM_170784.3(MKKS):c.1438G>A (p.Val480Ile)
NM_170784.3(MKKS):c.1445C>A (p.Ala482Glu)
NM_170784.3(MKKS):c.1447G>T (p.Asp483Tyr)
NM_170784.3(MKKS):c.1462_1463delinsAT (p.Ala488Ile) rs1568662701
NM_170784.3(MKKS):c.1470G>T (p.Trp490Cys) rs2122219766
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_170784.3(MKKS):c.1474G>C (p.Asp492His) 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.1534T>A (p.Phe512Ile) rs772349046
NM_170784.3(MKKS):c.1550G>A (p.Arg517His)
NM_170784.3(MKKS):c.1571G>A (p.Ser524Asn)
NM_170784.3(MKKS):c.1573dup (p.Cys525fs) rs2122219488
NM_170784.3(MKKS):c.1576C>A (p.Leu526Ile) rs1239900206
NM_170784.3(MKKS):c.1580C>T (p.Pro527Leu) rs2122219454
NM_170784.3(MKKS):c.1582_1587del (p.His528_Glu529del) rs2122219438
NM_170784.3(MKKS):c.1583A>G (p.His528Arg)
NM_170784.3(MKKS):c.1589C>T (p.Ala530Val) rs2122219422
NM_170784.3(MKKS):c.1591G>C (p.Val531Leu) rs750705949
NM_170784.3(MKKS):c.1598C>T (p.Ser533Leu) rs2064834350
NM_170784.3(MKKS):c.1604G>A (p.Ser535Asn)
NM_170784.3(MKKS):c.1605C>G (p.Ser535Arg) rs889037739
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.1649A>C (p.Gln550Pro)
NM_170784.3(MKKS):c.164G>C (p.Cys55Ser)
NM_170784.3(MKKS):c.1654G>A (p.Ala552Thr) rs532487848
NM_170784.3(MKKS):c.1664C>G (p.Thr555Arg) rs369472120
NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser) rs554429487
NM_170784.3(MKKS):c.1682A>T (p.Asp561Val) rs2064833443
NM_170784.3(MKKS):c.1702G>C (p.Asp568His) rs886056497
NM_170784.3(MKKS):c.180C>T (p.Ser60=) rs2064909876
NM_170784.3(MKKS):c.191T>C (p.Leu64Pro)
NM_170784.3(MKKS):c.206T>C (p.Val69Ala)
NM_170784.3(MKKS):c.235G>A (p.Ala79Thr)
NM_170784.3(MKKS):c.251A>C (p.His84Pro) rs2064908864
NM_170784.3(MKKS):c.259A>G (p.Ser87Gly)
NM_170784.3(MKKS):c.302A>G (p.Asn101Ser)
NM_170784.3(MKKS):c.302A>T (p.Asn101Ile) rs776936558
NM_170784.3(MKKS):c.314A>G (p.Asn105Ser)
NM_170784.3(MKKS):c.329G>T (p.Gly110Val) rs2064907691
NM_170784.3(MKKS):c.32T>C (p.Leu11Ser)
NM_170784.3(MKKS):c.334A>T (p.Thr112Ser)
NM_170784.3(MKKS):c.335C>G (p.Thr112Arg)
NM_170784.3(MKKS):c.406T>C (p.Cys136Arg)
NM_170784.3(MKKS):c.409G>A (p.Gly137Ser) rs1222401134
NM_170784.3(MKKS):c.40A>T (p.Ser14Cys) rs2064912754
NM_170784.3(MKKS):c.425T>C (p.Val142Ala) rs863224773
NM_170784.3(MKKS):c.460G>C (p.Val154Leu)
NM_170784.3(MKKS):c.462G>A (p.Val154=)
NM_170784.3(MKKS):c.466A>C (p.Ser156Arg)
NM_170784.3(MKKS):c.469A>G (p.Ile157Val)
NM_170784.3(MKKS):c.46C>A (p.Pro16Thr)
NM_170784.3(MKKS):c.475A>T (p.Thr159Ser)
NM_170784.3(MKKS):c.47C>T (p.Pro16Leu)
NM_170784.3(MKKS):c.511A>G (p.Thr171Ala)
NM_170784.3(MKKS):c.538A>G (p.Arg180Gly) rs1331122376
NM_170784.3(MKKS):c.53C>T (p.Thr18Ile)
NM_170784.3(MKKS):c.573A>C (p.Glu191Asp)
NM_170784.3(MKKS):c.602T>C (p.Ile201Thr)
NM_170784.3(MKKS):c.607C>T (p.Pro203Ser)
NM_170784.3(MKKS):c.628A>G (p.Ile210Val)
NM_170784.3(MKKS):c.629T>G (p.Ile210Arg)
NM_170784.3(MKKS):c.64G>A (p.Val22Ile)
NM_170784.3(MKKS):c.658A>G (p.Ile220Val)
NM_170784.3(MKKS):c.658A>T (p.Ile220Phe)
NM_170784.3(MKKS):c.659T>C (p.Ile220Thr)
NM_170784.3(MKKS):c.65T>A (p.Val22Asp)
NM_170784.3(MKKS):c.676C>G (p.Gln226Glu)
NM_170784.3(MKKS):c.689T>A (p.Leu230Gln) rs2122234625
NM_170784.3(MKKS):c.69G>C (p.Arg23Ser)
NM_170784.3(MKKS):c.715C>T (p.Leu239Phe) rs2064901215
NM_170784.3(MKKS):c.721G>T (p.Val241Leu)
NM_170784.3(MKKS):c.727C>T (p.Leu243Phe) rs2064900976
NM_170784.3(MKKS):c.744A>T (p.Leu248Phe) rs2122234451
NM_170784.3(MKKS):c.746C>T (p.Ser249Phe)
NM_170784.3(MKKS):c.751G>C (p.Asp251His) rs2064900610
NM_170784.3(MKKS):c.763A>G (p.Thr255Ala)
NM_170784.3(MKKS):c.764C>T (p.Thr255Ile) rs2064900423
NM_170784.3(MKKS):c.76C>G (p.Leu26Val)
NM_170784.3(MKKS):c.787A>T (p.Ser263Cys) rs764332400
NM_170784.3(MKKS):c.796G>T (p.Val266Phe) rs2064899855
NM_170784.3(MKKS):c.79T>G (p.Ser27Ala)
NM_170784.3(MKKS):c.802C>T (p.Leu268Phe)
NM_170784.3(MKKS):c.812C>T (p.Ala271Val) rs772754363
NM_170784.3(MKKS):c.820G>A (p.Asp274Asn) rs2064899452
NM_170784.3(MKKS):c.825G>T (p.Gln275His)
NM_170784.3(MKKS):c.82G>C (p.Val28Leu) rs368653529
NM_170784.3(MKKS):c.832A>G (p.Asn278Asp) rs578252932
NM_170784.3(MKKS):c.842G>C (p.Arg281Thr)
NM_170784.3(MKKS):c.843G>C (p.Arg281Ser)
NM_170784.3(MKKS):c.859C>A (p.His287Asn)
NM_170784.3(MKKS):c.868C>G (p.Leu290Val)
NM_170784.3(MKKS):c.875T>G (p.Leu292Arg)
NM_170784.3(MKKS):c.889A>G (p.Ile297Val)
NM_170784.3(MKKS):c.891A>G (p.Ile297Met) rs2064898329
NM_170784.3(MKKS):c.8G>C (p.Arg3Pro) rs770619894
NM_170784.3(MKKS):c.922C>A (p.His308Asn) rs1600848359
NM_170784.3(MKKS):c.937A>G (p.Ile313Val)
NM_170784.3(MKKS):c.94A>G (p.Ile32Val) rs578110162
NM_170784.3(MKKS):c.952G>A (p.Val318Met)
NM_170784.3(MKKS):c.955A>T (p.Thr319Ser)
NM_170784.3(MKKS):c.957_958insATGGCA (p.Thr319_Leu320insMetAla)
NM_170784.3(MKKS):c.980T>G (p.Met327Arg)
NM_170784.3(MKKS):c.986G>T (p.Gly329Val)

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