List of variants in gene PKD1 reported as likely pathogenic by Department of Pathology and Laboratory Medicine, Sinai Health System

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)	rs144979397	0.00495
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	rs1057518897	0.00001
NM_001009944.2(PKD1):c.8017-?_8161+?dup
NM_001009944.3(PKD1):c.11017-10C>A	rs555703777
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)	rs1303102528
NM_001009944.3(PKD1):c.1202-2A>T	rs2092662592
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)	rs1555444468
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)	rs1045675831
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr)	rs2092660647
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)	rs1555458413
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	rs199476100
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)	rs1567202750
NM_001009944.3(PKD1):c.6832G>A (p.Gly2278Arg)	rs1555454145
NM_001009944.3(PKD1):c.6916-9G>A	rs1567190244
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)	rs1452322332
NM_001009944.3(PKD1):c.8022del (p.Ser2675fs)	rs2092263697
NM_001009944.3(PKD1):c.8287_8289del (p.Leu2763del)	rs1555451280

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