ClinVar Miner

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

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ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240 0.00209
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp) rs145146218 0.00070
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp) rs559626481 0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu) rs760831781 0.00004
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg) rs754579374 0.00004
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg) rs372606845 0.00002
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val) rs199506378 0.00002
NM_172351.3(CD46):c.565T>G (p.Tyr189Asp) rs202071781 0.00002
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg) rs1256505387 0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176 0.00001
NM_000789.4(ACE):c.1709+5G>C rs1198993903 0.00001
NM_001692.4(ATP6V1B1):c.79C>T (p.Gln27Ter) rs1288346981 0.00001
NM_004183.4(BEST1):c.400C>G (p.Leu134Val) rs753614067 0.00001
NM_014625.4(NPHS2):c.965G>C (p.Arg322Pro) rs776859868 0.00001
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter) rs1430741326 0.00001
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759 0.00001
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro) rs889417696 0.00001
NM_000091.5(COL4A3):c.2021G>T (p.Gly674Val) rs1574767962
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) rs1306992119
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.5(COL4A4):c.158_159del (p.Ser53fs) rs2063103741
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp) rs2059360185
NM_000092.5(COL4A4):c.3408del (p.Met1137fs) rs1971618196
NM_000092.5(COL4A4):c.3593_3594del (p.Gly1198fs) rs1968590611
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.995G>T (p.Gly332Val) rs2060521579
NM_000186.4(CFH):c.3546G>C (p.Arg1182Ser) rs1653042358
NM_000204.5(CFI):c.1006C>T (p.Arg336Ter) rs759676430
NM_000272.4:c.(1520+1_1521-1)_(1697+1_1698-1)del
NM_000276.4(OCRL):c.533del (p.Pro178fs) rs1602782082
NM_000278.5(PAX2):c.388C>T (p.Pro130Ser) rs1054215531
NM_000330.4(RS1):c.578C>A (p.Pro193His) rs281865352
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg) rs878853002
NM_001002295.2(GATA3):c.1050+2T>A rs1832899364
NM_001023570.4(IQCB1):c.758del (p.Cys253fs) rs770441610
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001024630.4(RUNX2):c.770_771del (p.Met257fs) rs1800492946
NM_001029883.3(PCARE):c.1984dup (p.Thr662fs) rs1667504255
NM_001126108.2(SLC12A3):c.1636A>G (p.Ser546Gly) rs1451284628
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs) rs750710315
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) rs1933979876
NM_001127898.4(CLCN5):c.1730del (p.Ala577fs) rs1933984291
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) rs1933713383
NM_001378454.1(ALMS1):c.7580dup (p.Tyr2527Ter) rs1672034468
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_002292.4(LAMB2):c.2898del (p.Ala967fs) rs2045394381
NM_003361.4(UMOD):c.272_274del (p.Ser91del) rs1965755740
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003361.4(UMOD):c.411C>G (p.Cys137Trp) rs1197633531
NM_003647.3(DGKE):c.1A>T (p.Met1Leu) rs1906465563
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) rs869025541
NM_004646.4(NPHS1):c.456del (p.Gln154fs) rs1973238637
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004646.4(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_004998.4(MYO1E):c.1567C>T (p.Arg523Trp) rs781347673
NM_004998.4(MYO1E):c.3094_3097del (p.Thr1032fs) rs2079386835
NM_014140.4(SMARCAL1):c.2193del (p.Phe731fs) rs1694866812
NM_014625.4(NPHS2):c.550_551del (p.Met184fs) rs1673967760
NM_014625.4(NPHS2):c.923C>T (p.Ala308Val) rs1673255837
NM_015102.5(NPHP4):c.2327del (p.Pro776fs) rs1643882944
NM_016341.4(PLCE1):c.4182_4201dup (p.Tyr1401fs) rs2051495579
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs) rs1951753208
NM_024876.4(COQ8B):c.748G>C (p.Asp250His) rs769834604
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs) rs756302731
NM_033380.3(COL4A5):c.1498G>C (p.Gly500Arg) rs281874670
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) rs754223700
NM_033380.3(COL4A5):c.1532del (p.Pro511fs) rs2066528020
NM_033380.3(COL4A5):c.1922G>A (p.Gly641Glu) rs1569494378
NM_033380.3(COL4A5):c.2042-2A>C rs2066636714
NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu) rs2066640120
NM_033380.3(COL4A5):c.2344_2345insG (p.Pro782fs) rs2066736944
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu) rs104886199
NM_033380.3(COL4A5):c.276+2dup rs2065934135
NM_033380.3(COL4A5):c.4291_4297delinsCT (p.Asp1431fs) rs2068539903
NM_033380.3(COL4A5):c.438+1_438+3dup rs2066064057
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) rs1446729264
NM_138694.4(PKHD1):c.2172del (p.Gly726fs) rs1806601043
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter) rs1803878901

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