ClinVar Miner

List of variants in gene PKD1 reported as pathogenic by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.5516G>A (p.Trp1839Ter)	rs2544811872
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs)	rs2151754069

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