ClinVar Miner

List of variants reported as pathogenic for autosomal dominant polycystic liver disease by Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00008
NM_024079.5(ALG8):c.685C>T (p.Arg229Ter) rs533704173 0.00003
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
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter) rs1473182306 0.00001
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) rs2496886120
NM_024079.5(ALG8):c.160C>T (p.Gln54Ter) rs2497144999
NM_024079.5(ALG8):c.272del (p.Asn91fs) rs866578354
NM_024079.5(ALG8):c.371del (p.Cys124fs) rs2497085175
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_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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