ClinVar Miner

List of variants in gene PKD2 reported as likely pathogenic for Polycystic kidney disease 2

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000297.4(PKD2):c.1898+5G>A rs1553926929 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln) rs145877597 0.00001
GRCh37/hg19 4q22.1(chr4:88973122-88979275)
NC_000004.11:g.(88940724_88957371)_(88957506_88959402)del
NM_000297.4(PKD2):c.1026del (p.Glu343fs)
NM_000297.4(PKD2):c.1094+1del rs2110107353
NM_000297.4(PKD2):c.1095-1G>T
NM_000297.4(PKD2):c.1116dup (p.Asp373fs) rs2110112037
NM_000297.4(PKD2):c.1231_1239dup (p.Val413_Trp414insLysAsnVal)
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1390del (p.Arg464fs) rs1727786451
NM_000297.4(PKD2):c.1623_1626del (p.Asp541fs) rs1560617356
NM_000297.4(PKD2):c.1645dup (p.Glu549fs)
NM_000297.4(PKD2):c.1807dup (p.Met603fs) rs1578141765
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000297.4(PKD2):c.2178dup (p.Glu727fs)
NM_000297.4(PKD2):c.2241-2A>G rs1560626499
NM_000297.4(PKD2):c.690del (p.Leu231fs)
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) rs2110104859
NM_000297.4(PKD2):c.783dup (p.Val262fs) rs2110104877
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln) rs1727420867
NM_000297.4(PKD2):c.982_984del (p.Asn328del) rs1727421192

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