ClinVar Miner

List of variants reported as pathogenic by Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_152464.3(TMEM199):c.92G>C (p.Arg31Pro) rs782531869 0.00006
NM_024079.5(ALG8):c.685C>T (p.Arg229Ter) rs533704173 0.00004
NM_032357.4(CCDC115):c.92T>C (p.Leu31Ser) rs751325113 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_007214.5(SEC63):c.2006_2007del (p.His669fs) rs1403483213 0.00001
NM_007214.5(SEC63):c.292C>T (p.Arg98Ter) rs768568123 0.00001
NM_007214.5(SEC63):c.452+1G>A rs869312977 0.00001
NM_024079.5(ALG8):c.981dup (p.Val328fs) rs777686455 0.00001
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter) rs774759689 0.00001
Multiple alleles
NM_000297.4(PKD2):c.1985del (p.Thr662fs) rs2110129653
NM_000297.4(PKD2):c.2125del (p.His709fs) rs2110137964
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter) rs757682666
NM_000297.4(PKD2):c.2584del (p.Ala862fs) rs2110150747
NM_000297.4(PKD2):c.538dup (p.Leu180fs) rs1371793191
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter) rs1726258048
NM_000297.4(PKD2):c.605del (p.Gly202fs) rs2110089194
NM_000297.4(PKD2):c.710-1G>A rs2110104725
NM_000297.4(PKD2):c.860T>G (p.Leu287Ter) rs1727413505
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter) rs2151726823
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter) rs1385274120
NM_001009944.3(PKD1):c.109del (p.Cys37fs) rs2151858299
NM_001009944.3(PKD1):c.11016+1G>A rs2151707040
NM_001009944.3(PKD1):c.11270-1G>A rs2151700092
NM_001009944.3(PKD1):c.11712+1G>C rs2091571329
NM_001009944.3(PKD1):c.12725_12735dup (p.Leu4246fs) rs2151675632
NM_001009944.3(PKD1):c.1353dup (p.Val452fs) rs2151822325
NM_001009944.3(PKD1):c.2681_2690del (p.Leu893_Phe894insTer) rs2151813077
NM_001009944.3(PKD1):c.2839C>T (p.Gln947Ter) rs763199691
NM_001009944.3(PKD1):c.302del (p.Asn101fs) rs2151826161
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.5065G>T (p.Glu1689Ter) rs534630703
NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter) rs2151792059
NM_001009944.3(PKD1):c.5964_5965del (p.Arg1990fs) rs2151790507
NM_001009944.3(PKD1):c.6210del (p.Cys2071fs) rs2151789316
NM_001009944.3(PKD1):c.6391A>C (p.Ser2131Arg) rs2151788244
NM_001009944.3(PKD1):c.6555C>A (p.Tyr2185Ter) rs755972713
NM_001009944.3(PKD1):c.6915+1G>A rs2151785467
NM_001009944.3(PKD1):c.7065+2T>G rs2151783529
NM_001009944.3(PKD1):c.7579_7580del (p.Val2527fs) rs2151772170
NM_001009944.3(PKD1):c.8631del (p.Asn2878fs) rs2151754452
NM_001009944.3(PKD1):c.9398-2A>G rs2151742515
NM_001009944.3(PKD1):c.9569-1G>C rs2151741177
NM_001009944.3(PKD1):c.965_984dup (p.Gly329fs) rs2151823406
NM_001289104.2(PRKCSH):c.1290C>A (p.Tyr430Ter) rs121918520
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs) rs779685748
NM_001289104.2(PRKCSH):c.430_432delinsAATAAGG (p.Leu144fs) rs2144822009
NM_001289104.2(PRKCSH):c.487C>T (p.Gln163Ter) rs2144826022
NM_007214.5(SEC63):c.105G>A (p.Trp35Ter) rs1011931149
NM_007214.5(SEC63):c.1249G>T (p.Glu417Ter) rs1787002281
NM_007214.5(SEC63):c.133C>T (p.Arg45Ter) rs2114487759
NM_007214.5(SEC63):c.1434_1435del (p.Met479fs) rs2114434218
NM_007214.5(SEC63):c.1577C>A (p.Ser526Ter) rs779331877
NM_007214.5(SEC63):c.1810A>T (p.Lys604Ter) rs2114406531
NM_007214.5(SEC63):c.1817_1821del (p.Asn606fs) rs2114406508
NM_007214.5(SEC63):c.1864C>T (p.Arg622Ter) rs2114403750
NM_007214.5(SEC63):c.1895C>A (p.Ser632Ter) rs768615942
NM_007214.5(SEC63):c.220del (p.Thr73_Val74insTer) rs869312978
NM_007214.5(SEC63):c.359_366del (p.Ile120fs) rs2114476485
NM_007214.5(SEC63):c.422del (p.Met141fs) rs2114476431
NM_007214.5(SEC63):c.636G>A (p.Trp212Ter) rs2114454119
NM_007214.5(SEC63):c.693_694dup (p.Thr232fs) rs2114453997
NM_007214.5(SEC63):c.715C>T (p.Arg239Ter) rs755795110
NM_007214.5(SEC63):c.958G>T (p.Glu320Ter) rs749842172
NM_007214.5(SEC63):c.964del (p.Gln322fs) rs2114447040
NM_024079.5(ALG8):c.1501del (p.Ala500_Val501insTer)
NM_024079.5(ALG8):c.160C>T (p.Gln54Ter)
NM_024079.5(ALG8):c.272del (p.Asn91fs)
NM_024079.5(ALG8):c.371del (p.Cys124fs)
NM_032357.4(CCDC115):c.31G>T (p.Asp11Tyr) rs869025583
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs) rs1334145215
NM_138694.4(PKHD1):c.10727G>A (p.Trp3576Ter) rs2150413999
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.2285_2286del (p.Val762fs) rs2128193153
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter) rs1473182306
NM_152464.2(TMEM199):c.[376-1G>A];[40G>C]
NM_152464.3(TMEM199):c.20C>A (p.Ala7Glu) rs369488804
NM_198334.3(GANAB):c.11_16del (p.Val4_Ala5del) rs750723025
NM_198334.3(GANAB):c.1769G>C (p.Arg590Pro) rs1465649718
NM_198334.3(GANAB):c.1936+1G>C rs1565092899
NM_198334.3(GANAB):c.2443C>T (p.Arg815Ter) rs1565088616
NM_198334.3(GANAB):c.2590C>T (p.Arg864Ter) rs1210158408
NM_198334.3(GANAB):c.621del (p.Asp207fs) rs1565099895

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