List of variants in gene PKD1 reported as likely pathogenic by Ambry Genetics

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.2854-1G>T	rs2544845417
NM_001009944.3(PKD1):c.3295+1G>C	rs2092536130
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)	rs1567202750
NM_001009944.3(PKD1):c.7489+2T>C
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)	rs797044902
NM_001009944.3(PKD1):c.7703+1G>T
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile)	rs1567173560

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