ClinVar Miner

List of variants in gene combination LOC105371049, PKD1 reported as pathogenic for Autosomal recessive polycystic kidney disease

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Total variants: 2
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HGVS dbSNP
NM_001009944.3(PKD1):c.10698_10703GGCTGT[2] (p.3567_3568AV[2]) rs777460677
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter) rs1325300747

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