ClinVar Miner

List of variants reported as likely benign for Polycystic kidney disease 3 with or without polycystic liver disease by Fulgent Genetics, Fulgent Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_198334.3(GANAB):c.714G>A (p.Pro238=) rs139305180 0.01448
NM_198334.3(GANAB):c.380+15A>G rs146098557 0.00910
NM_198334.3(GANAB):c.38+17C>T rs200471233 0.00275
NM_198334.3(GANAB):c.1386+18C>T rs79188721 0.00066
NM_198334.3(GANAB):c.2343C>T (p.Ser781=) rs779306237 0.00018
NM_198334.3(GANAB):c.2253G>A (p.Ala751=) rs200456484 0.00016
NM_198334.3(GANAB):c.920C>G (p.Pro307Arg) rs201801499 0.00012
NM_198334.3(GANAB):c.1594-9C>T rs200289173 0.00006
NM_198334.3(GANAB):c.2512-13A>G rs376460143 0.00004

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