ClinVar Miner

List of variants in gene PKD2 reported as pathogenic by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) rs121918040 0.00001
NC_000004.11:g.88957372-?_89042944+?dup
NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter) rs121918039
NM_000297.4(PKD2):c.1213C>T (p.Gln405Ter) rs121918041
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) rs121918042
NM_000297.4(PKD2):c.1532A>T (p.Asp511Val) rs121918043
NM_000297.4(PKD2):c.1934_1935delinsT (p.Asn645fs) rs1560621750
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.693dup (p.Ile232fs) rs1560598042

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