ClinVar Miner

List of variants reported as pathogenic for Autosomal dominant polycystic kidney disease by Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526 0.00001
NC_000016.10:g.2132490_2138215del
NM_000297.4(PKD2):c.1178_1227dup (p.Lys410fs) rs1727648258
NM_000297.4(PKD2):c.203dup (p.Ala69fs) rs1187336837
NM_000297.4(PKD2):c.2118+1G>C rs1720594399
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2524del (p.Leu842fs) rs1553928730
NM_001009944.3(PKD1):c.11713-1G>A rs867092741
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12310del (p.Val4104fs)
NM_001009944.3(PKD1):c.1232_1251dup (p.His418fs) rs2092661595
NM_001009944.3(PKD1):c.1491dup (p.Gly498fs) rs2092648005
NM_001009944.3(PKD1):c.176_206del (p.Leu59fs) rs2092939869
NM_001009944.3(PKD1):c.6071del (p.Arg2024fs)
NM_001009944.3(PKD1):c.6534C>A (p.Cys2178Ter) rs1054011070
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.78del (p.Arg28fs) rs2092941432
NM_001009944.3(PKD1):c.9894G>A (p.Trp3298Ter) rs1415277933
Single allele

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