ClinVar Miner

List of variants reported as likely pathogenic by Molecular Biology Laboratory, Fundació Puigvert

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ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser) rs201367228 0.00021
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val) rs145473779 0.00014
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353 0.00009
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132 0.00006
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly) rs200655479 0.00006
NM_000085.5(CLCNKB):c.1270G>A (p.Gly424Arg) rs769163950 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484 0.00004
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn) rs200841458 0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_020975.6(RET):c.2656C>T (p.Arg886Trp) rs146838520 0.00003
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp) rs118203979 0.00003
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336 0.00001
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val) rs759583948 0.00001
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser) rs776036994 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) rs747249619 0.00001
NM_004998.4(MYO1E):c.2481-12A>G rs370209627 0.00001
NM_017807.4(OSGEP):c.157A>T (p.Ile53Phe) rs780944919 0.00001
NM_024876.4(COQ8B):c.439T>C (p.Cys147Arg) rs2082092886 0.00001
NM_025132.4(WDR19):c.1477G>C (p.Asp493His) rs587777349 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_052989.3(IFT122):c.1532T>C (p.Leu511Pro) rs372355939 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282 0.00001
NM_153240.5(NPHP3):c.1871C>T (p.Ser624Phe) rs1939561839 0.00001
NM_173689.7(CRB2):c.3214C>T (p.Arg1072Cys) rs770448714 0.00001
NM_000091.5(COL4A3):c.2074G>A (p.Gly692Ser) rs761780956
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu) rs1553759430
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala) rs267599232
NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg) rs2071886531
NM_000091.5(COL4A3):c.2390C>T (p.Pro797Leu) rs1283533086
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) rs121912826
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) rs2073401281
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg) rs2073646176
NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys) rs2069716520
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu) rs1574699806
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del) rs773081522
NM_000092.5(COL4A4):c.1952G>T (p.Gly651Val) rs2059121113
NM_000092.5(COL4A4):c.3559G>A (p.Gly1187Arg) rs1968850188
NM_000092.5(COL4A4):c.3619G>A (p.Gly1207Arg) rs1968585119
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys) rs781360383
NM_000092.5(COL4A4):c.4334-23A>G rs766501515
NM_000092.5(COL4A4):c.4351G>A (p.Gly1451Arg) rs1963420059
NM_000092.5(COL4A4):c.491G>A (p.Gly164Asp) rs2061397001
NM_000092.5(COL4A4):c.731A>C (p.Asp244Ala) rs2060993539
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp) rs760795817
NM_000098.3(CPT2):c.251G>A (p.Cys84Tyr) rs909671156
NM_000196.4(HSD11B2):c.983C>T (p.Ala328Val) rs1453036708
NM_000214.3(JAG1):c.2914C>G (p.Pro972Ala) rs2067270959
NM_000278.5(PAX2):c.70G>T (p.Gly24Trp) rs1845366198
NM_000297.4(PKD2):c.860T>C (p.Leu287Ser) rs1727413505
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000368.5(TSC1):c.278T>A (p.Leu93Gln) rs118203363
NM_000458.4(HNF1B):c.1340-3C>G rs2032559501
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)
NM_000458.4(HNF1B):c.884G>C (p.Arg295Pro)
NM_000458.4(HNF1B):c.910A>G (p.Arg304Gly) rs2033692285
NM_000495.5:c.(3373+1_3374-1)_(3790+1_3791-1)dup
NM_000537.4(REN):c.58T>C (p.Cys20Arg) rs1658347337
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000789.4(ACE):c.2049C>A (p.Ser683Arg) rs148491967
NM_001009944.3(PKD1):c.10694T>G (p.Leu3565Arg) rs2091727215
NM_001009944.3(PKD1):c.10946C>G (p.Pro3649Arg) rs2091706289
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del) rs1567154953
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.112del (p.Leu38fs) rs2092941002
NM_001009944.3(PKD1):c.11341_11343del (p.Tyr3781del) rs2091619119
NM_001009944.3(PKD1):c.11416T>G (p.Trp3806Gly) rs2091602155
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro) rs2092665731
NM_001009944.3(PKD1):c.1265T>C (p.Leu422Pro) rs2092661241
NM_001009944.3(PKD1):c.1543G>T (p.Gly515Trp) rs1555458704
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2078_2089dup (p.Ala696_Gln697insArgProProAla) rs2092614761
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del) rs1567207029
NM_001009944.3(PKD1):c.380T>G (p.Phe127Cys) rs2092679766
NM_001009944.3(PKD1):c.6124G>C (p.Ala2042Pro) rs556681288
NM_001009944.3(PKD1):c.6701T>A (p.Val2234Glu) rs2092417183
NM_001009944.3(PKD1):c.7301_7312dup (p.Arg2434_Val2437dup) rs2092343785
NM_001009944.3(PKD1):c.7703G>A (p.Arg2568Lys) rs2092327300
NM_001009944.3(PKD1):c.9365T>G (p.Ile3122Ser) rs2092119998
NM_001009944.3(PKD1):c.9454C>G (p.Arg3152Gly) rs776866974
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.4(CUBN):c.7968_7969delinsTGTTATACCTTATATAA (p.Leu2656_Pro2657delinsPheValIleProTyrIleThr) rs2131430377
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp) rs797044812
NM_001142966.3(GREB1L):c.5074G>T (p.Asp1692Tyr) rs2037388926
NM_001845.6(COL4A1):c.1793G>T (p.Gly598Val) rs1878411691
NM_001845.6(COL4A1):c.4151G>A (p.Gly1384Asp) rs1877185960
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_003361.4(UMOD):c.189C>G (p.Cys63Trp) rs1199326518
NM_004621.6(TRPC6):c.2641G>T (p.Glu881Ter) rs1858816107
NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu) rs1694331040
NM_014625.4(NPHS2):c.953_955del (p.Ala318del) rs1427261340
NM_015102.5(NPHP4):c.4115T>C (p.Leu1372Pro) rs765043646
NM_017807.4(OSGEP):c.81C>G (p.Asn27Lys) rs1881216647
NM_022489.4(INF2):c.605A>G (p.Asn202Ser) rs2140648522
NM_024876.4(COQ8B):c.748G>C (p.Asp250His) rs769834604
NM_025132.4(WDR19):c.1442A>G (p.His481Arg) rs1729264976
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp) rs766616967
NM_033380.3(COL4A5):c.1234G>C (p.Gly412Arg) rs2066425897
NM_033380.3(COL4A5):c.1481G>A (p.Gly494Asp) rs104886118
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp) rs281874673
NM_033380.3(COL4A5):c.1826G>C (p.Gly609Ala) rs104886140
NM_033380.3(COL4A5):c.2668G>A (p.Gly890Arg) rs2067018186
NM_033380.3(COL4A5):c.2677G>A (p.Gly893Ser) rs1569497776
NM_033380.3(COL4A5):c.3373G>A (p.Gly1125Arg) rs2067822565
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_033380.3(COL4A5):c.4316-20T>A rs2068567564
NM_033380.3(COL4A5):c.466-12G>A rs104886414
NM_033380.3(COL4A5):c.834del (p.Gly279fs) rs2066227699
NM_033380.3(COL4A5):c.983G>A (p.Gly328Asp) rs2066274585
NM_052989.3(IFT122):c.896G>A (p.Gly299Asp) rs2077955754
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser) rs1791737049
NM_138694.4(PKHD1):c.7592T>C (p.Leu2531Pro) rs1775360219
NM_138694.4(PKHD1):c.790G>A (p.Val264Met) rs1809647915
NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro) rs778592523
NM_138694.4(PKHD1):c.8312T>C (p.Val2771Ala) rs1793719203
NM_138694.4(PKHD1):c.842G>A (p.Gly281Glu) rs1809634616
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_144596.4(TTC8):c.69del (p.Cys23fs) rs2094690718
NM_148960.3(CLDN19):c.530T>G (p.Leu177Arg) rs1651357824
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp) rs755314355
NM_153240.5(NPHP3):c.326TGT[1] (p.Leu110del) rs753616848
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg) rs138783896
NM_153704.6(TMEM67):c.551G>A (p.Cys184Tyr) rs1813039419
NM_178170.3(NEK8):c.322TTC[1] (p.Phe109del) rs772543894

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