ClinVar Miner

List of variants reported as likely pathogenic for Autosomal dominant polycystic kidney disease

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Total variants: 13
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HGVS dbSNP
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2720ACGTGGTGG[1] (p.Asp910_Val912del)
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp) rs1567208088
NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys)
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001009944.3(PKD1):c.9502_9504del (p.Phe3168del)
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944

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