ClinVar Miner

List of variants reported as likely pathogenic for Polycystic kidney disease 2

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Total variants: 16
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HGVS dbSNP
NM_000297.4(PKD2):c.111_117delinsGG (p.Ser39fs)
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1390del (p.Arg464fs)
NM_000297.4(PKD2):c.1623_1626del (p.Asp541fs) rs1560617356
NM_000297.4(PKD2):c.1807dup (p.Met603fs) rs1578141765
NM_000297.4(PKD2):c.1898+5G>A rs1553926929
NM_000297.4(PKD2):c.2246_2247insGCCATACTGG (p.His750fs) rs1578147458
NM_000297.4(PKD2):c.295G>T (p.Glu99Ter) rs1578111378
NM_000297.4(PKD2):c.481_502del (p.Gly161fs) rs1553923513
NM_000297.4(PKD2):c.691dup (p.Leu231fs) rs1553924174
NM_000297.4(PKD2):c.693del (p.Leu231_Ile232insTer) rs1578118371
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro)
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln) rs145877597
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln)
NM_000297.4(PKD2):c.982_984del (p.Asn328del)

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