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

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Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)	rs398124478	0.00005
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_198334.3(GANAB):c.11_16del (p.Val4_Ala5del)	rs750723025

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