ClinVar Miner

List of variants reported as pathogenic by Sydney Genome Diagnostics, Children's Hospital Westmead

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Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser) rs1800578 0.00057
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 0.00009
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 0.00004
NM_015102.5(NPHP4):c.3010dup (p.Thr1004fs) rs748950922 0.00004
NM_025074.7(FRAS1):c.4843+2T>C rs370018000 0.00004
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) rs180177210 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_001038.6(SCNN1A):c.574del (p.Arg192fs) rs767638989 0.00001
NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter) rs781209989 0.00001
NM_001126108.2(SLC12A3):c.506-1G>A rs201555148 0.00001
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser) rs764181464 0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920 0.00001
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108 0.00001
NM_014425.5(INVS):c.464G>A (p.Trp155Ter) rs1007394906 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_015102.5(NPHP4):c.1228C>T (p.Gln410Ter) rs1237376396 0.00001
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter) rs775612958 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000064.4(C3):c.3470T>C (p.Ile1157Thr) rs1918142335
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu) rs1131691738
NM_000091.5(COL4A3):c.1822G>A (p.Gly608Arg) rs2071334080
NM_000091.5(COL4A3):c.2621del (p.Gly874fs) rs759043857
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs) rs1963392922
NM_000092.5(COL4A4):c.555dup (p.Gln186fs) rs2061393958
NM_000186.4(CFH):c.1574G>A (p.Trp525Ter) rs1328357943
NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter) rs1652987369
NM_000186.4(CFH):c.3493+2T>C rs1652989506
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly) rs121913051
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) rs727504412
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000339.2:c.(2951+1_2952-1)_(*1_?)del
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000388.4(CASR):c.2363T>G (p.Phe788Cys) rs104893701
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_000486.6(AQP2):c.375del (p.Thr126fs) rs764380594
NM_000503.5(EYA1):c.557del rs1819990660
NM_001031681.2:c.(225+1_226-1)_(852+1_853-1)del
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413
NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter) rs776210036
NM_001127898.4(CLCN5):c.2362C>T (p.Arg788Ter) rs797044814
NM_001127898.4(CLCN5):c.604-2A>G rs1933652537
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter) rs766069291
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) rs1191455921
NM_002292.4(LAMB2):c.4519C>T (p.Gln1507Ter) rs974891221
NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys) rs121434394
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_015102.5(NPHP4):c.1998_1999del (p.Tyr667fs) rs1644833186
NM_017909.4(RMND1):c.829_830+2del rs1780336606
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala) rs137852837
NM_030787.3:c.(58+1_59-1)_(430+1_431-1)dup
NM_033380.3(COL4A5):c.1166-1G>A rs1569492951
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp) rs104886101
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp) rs281874673
NM_033380.3(COL4A5):c.1763_1779+3del rs2066542728
NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser) rs1603290681
NM_033380.3(COL4A5):c.1815del (p.Asn607fs) rs2066568818
NM_033380.3(COL4A5):c.2201del (p.Gly734fs) rs2066663117
NM_033380.3(COL4A5):c.2387G>A (p.Gly796Glu) rs1569495819
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2678G>C (p.Gly893Ala) rs397515496
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser) rs1556420349
NM_033380.3(COL4A5):c.3310G>C (p.Gly1104Arg) rs1569504072
NM_033380.3(COL4A5):c.3374-1G>A rs2068058963
NM_033380.3(COL4A5):c.3556C>T (p.Gln1186Ter) rs1381117009
NM_033380.3(COL4A5):c.3632G>A (p.Gly1211Glu) rs104886247
NM_033380.3(COL4A5):c.3883C>T (p.Gln1295Ter) rs2068330799
NM_033380.3(COL4A5):c.3942+2T>C rs2068333361
NM_033380.3(COL4A5):c.4376dup (p.Gly1460fs) rs2068571470
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter) rs104886286
NM_033380.3(COL4A5):c.4769C>A (p.Pro1590His) rs281874747
NM_033380.3(COL4A5):c.687+1G>A rs104886440
NM_033380.3(COL4A5):c.757delinsCT (p.Val253fs) rs2066189282
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071
NM_153704.6(TMEM67):c.2301del (p.Asp768fs) rs386834191
NM_170784.3(MKKS):c.592_593del (p.Lys198fs) rs2064903228
NM_172351.3(CD46):c.476-1G>A rs1441390681
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732

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