ClinVar Miner

List of variants in gene PKD1 studied for Autosomal recessive polycystic kidney disease

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001009944.2(PKD1):c.8017-?_8161+?dup
NM_001009944.3(PKD1):c.377C>T (p.Pro126Leu) rs1567219166
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
Single allele

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