List of variants in gene PKD1 reported as likely pathogenic by Gharavi Laboratory, Columbia University

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: 23

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.1039_1045del (p.Gly347fs)	rs1567217194
NM_001009944.3(PKD1):c.10998del (p.Arg3666fs)	rs1567157447
NM_001009944.3(PKD1):c.11251_11266del (p.Gln3751fs)	rs1567154939
NM_001009944.3(PKD1):c.12444G>C (p.Glu4148Asp)	rs1567145638
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys)	rs1567216536
NM_001009944.3(PKD1):c.12718G>T (p.Glu4240Ter)	rs1567143705
NM_001009944.3(PKD1):c.1420C>T (p.Gln474Ter)	rs1567215646
NM_001009944.3(PKD1):c.1439del (p.Pro480fs)	rs1567215590
NM_001009944.3(PKD1):c.1903dup (p.Gln635fs)	rs1567213083
NM_001009944.3(PKD1):c.275del (p.Ala92fs)	rs1567219735
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs)	rs1567204146
NM_001009944.3(PKD1):c.4110_4113del (p.His1369_Tyr1370insTer)	rs1567201338
NM_001009944.3(PKD1):c.5937C>A (p.Cys1979Ter)	rs754333013
NM_001009944.3(PKD1):c.6508dup (p.Glu2170fs)	rs1567192623
NM_001009944.3(PKD1):c.7274del (p.Gly2425fs)	rs1567186399
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter)	rs1567186165
NM_001009944.3(PKD1):c.741_742dup (p.Cys248fs)	rs1567218104
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter)	rs1555451368
NM_001009944.3(PKD1):c.8423T>C (p.Ile2808Thr)	rs1567177764
NM_001009944.3(PKD1):c.9231dup (p.Met3078fs)	rs1567173968
NM_001009944.3(PKD1):c.9518del (p.Pro3173fs)	rs1567171182
NM_001009944.3(PKD1):c.9558C>G (p.His3186Gln)	rs765094547
NM_001009944.3(PKD1):c.9563A>T (p.Asn3188Ile)	rs1567171059

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