ClinVar Miner

List of variants in gene PKD1 reported as likely pathogenic for Autosomal recessive polycystic kidney disease

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Total variants: 5
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HGVS dbSNP
NM_001009944.2(PKD1):c.8017-?_8161+?dup
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.6832G>A (p.Gly2278Arg) rs1555454145

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