List of variants in gene PKD1 reported as uncertain significance 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser)	rs573566419	0.00003
NM_001009944.3(PKD1):c.10940G>A (p.Arg3647Gln)	rs1415072762	0.00001
NM_001009944.3(PKD1):c.7183A>T (p.Asn2395Tyr)	rs763140198	0.00001
NM_001009944.3(PKD1):c.1047_1049del (p.Asp349_Val350delinsGlu)	rs1567217173
NM_001009944.3(PKD1):c.11868_11869insACT (p.Leu3956_Gly3957insThr)	rs1567149662
NM_001009944.3(PKD1):c.11986_12000del (p.Phe3996_Val4000del)	rs1567148933
NM_001009944.3(PKD1):c.2020_2025dup (p.Gly674_Leu675dup)	rs1567212718
NM_001009944.3(PKD1):c.305_307del (p.Lys102del)	rs1567219527
NM_001009944.3(PKD1):c.3749G>A (p.Gly1250Asp)	rs1567202673
NM_001009944.3(PKD1):c.4127T>C (p.Val1376Ala)	rs753120006
NM_001009944.3(PKD1):c.4319_4321del (p.Ser1440del)	rs1567200450
NM_001009944.3(PKD1):c.7336_7338del (p.Phe2446del)	rs1567186120
NM_001009944.3(PKD1):c.7646_7648del (p.Val2549del)	rs1567184420
NM_001009944.3(PKD1):c.9067_9123del (p.Met3023_Ala3041del)	rs1567174543

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