List of variants in gene PKD2 reported as likely pathogenic by GeneDx

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000297.4(PKD2):c.1319+1G>A	rs1131692280	0.00001
NM_000297.4(PKD2):c.1094+3_1094+6del	rs1553925470
NM_000297.4(PKD2):c.2020-1_2020del	rs1553927436
NM_000297.4(PKD2):c.709+1G>A	rs398123308
NM_000297.4(PKD2):c.710-2A>G	rs2110104722
NM_000297.4(PKD2):c.843G>A (p.Lys281=)	rs1727333486
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln)	rs1727420867
NM_000297.4(PKD2):c.992G>A (p.Cys331Tyr)	rs1578130536

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