ClinVar Miner

List of variants reported as likely pathogenic by Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser) rs1163700577 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_000297.4(PKD2):c.1235dup (p.Asn412fs) rs1727650877
NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly) rs1727651995
NM_000297.4(PKD2):c.1973del (p.Pro658fs) rs1720429890
NM_000297.4(PKD2):c.875A>G (p.Tyr292Cys) rs1560608538
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.10524del (p.Glu3509fs) rs2091741402
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11017-25A>C rs2151704874
NM_001009944.3(PKD1):c.11017-25A>G
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.11712+1G>C rs2091571329
NM_001009944.3(PKD1):c.12004-2A>G rs2091475604
NM_001009944.3(PKD1):c.12326_12335del (p.Arg4109fs) rs2091440547
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.12507del (p.Lys4170fs) rs2091410164
NM_001009944.3(PKD1):c.1260C>G (p.Tyr420Ter) rs2092661409
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)
NM_001009944.3(PKD1):c.2096C>A (p.Ser699Ter) rs774476595
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2289_2299del (p.Cys767fs) rs2092600667
NM_001009944.3(PKD1):c.2720ACGTGGTGG[1] (p.Asp910_Val912del) rs2092591934
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp) rs1567208088
NM_001009944.3(PKD1):c.3631G>T (p.Glu1211Ter) rs2092505450
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter) rs780119305
NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys) rs2092427197
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.6970dup (p.Thr2324fs) rs2092402238
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001009944.3(PKD1):c.7489+5G>A rs2092337963
NM_001009944.3(PKD1):c.7743_7767dup (p.Gly2590fs) rs2092322668
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.827_830del (p.Thr276fs) rs2092670456
NM_001009944.3(PKD1):c.8955_8962del (p.Arg2985fs) rs2092142482
NM_001009944.3(PKD1):c.9502_9504del (p.Phe3168del) rs2092048798
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9568G>A (p.Gly3190Arg) rs1060499704
NM_016306.6(DNAJB11):c.400del (p.Ile134fs) rs1169192999
NM_016306.6(DNAJB11):c.430G>T (p.Glu144Ter) rs1273228187
NM_138694.4(PKHD1):c.3761_3785delinsGCCCCAGATACCCGATGCGGGCGT (p.Ala1254fs) rs1802122259

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