List of variants in gene PKD1 reported as likely pathogenic by Cavalleri Lab, Royal College of Surgeons in Ireland

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_001009944.3(PKD1):c.10942C>A (p.Pro3648Thr)	rs2091706456
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	rs199476100
NM_001009944.3(PKD1):c.3696CGC[1] (p.Ala1234del)	rs2092503169
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)	rs1567202750
NM_001009944.3(PKD1):c.7303_7317del (p.Arg2435_Arg2439del)	rs2092343570
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del)	rs1596527370
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)	rs2092203712
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)	rs2092020811

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