List of variants in gene PKD1 reported as benign by Genome Diagnostics Laboratory, University Medical Center Utrecht

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: 40

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.2216G>A (p.Arg739Gln)	rs40433	0.96736
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg)	rs116092985	0.07036
NM_001009944.3(PKD1):c.2700G>A (p.Pro900=)	rs35667726	0.05004
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu)	rs61747420	0.03980
NM_001009944.3(PKD1):c.2854-5C>T	rs114846412	0.02895
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met)	rs147350387	0.01193
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser)	rs144557371	0.01150
NM_001009944.3(PKD1):c.8037A>G (p.Val2679=)	rs139752541	0.00850
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys)	rs140869992	0.00811
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=)	rs145737766	0.00637
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg)	rs149151043	0.00622
NM_001009944.3(PKD1):c.11537+3_11537+5dup	rs201204878	0.00559
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr)	rs148164067	0.00508
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=)	rs117856830	0.00507
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr)	rs144137200	0.00389
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=)	rs145955373	0.00360
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=)	rs141557400	0.00346
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile)	rs148478410	0.00312
NM_001009944.3(PKD1):c.3296-15G>A	rs201704201	0.00306
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=)	rs142002333	0.00270
NM_001009944.3(PKD1):c.12664C>T (p.Leu4222=)	rs144370969	0.00202
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=)	rs148852027	0.00153
NM_001009944.3(PKD1):c.1202C>T (p.Ala401Val)	rs139917246	0.00140
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=)	rs145176597	0.00128
NM_001009944.3(PKD1):c.10400C>T (p.Ala3467Val)	rs144590217	0.00123
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe)	rs369291413	0.00122
NM_001009944.3(PKD1):c.9924-11C>T	rs201154266	0.00111
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val)	rs148496347	0.00089
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=)	rs147253810	0.00085
NM_001009944.3(PKD1):c.2039A>T (p.Tyr680Phe)	rs370141157	0.00080
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=)	rs201509188	0.00075
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr)	rs150568356	0.00069
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile)	rs140162759	0.00058
NM_001009944.3(PKD1):c.6331G>A (p.Glu2111Lys)	rs138672759	0.00024
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met)	rs117896488	0.00010
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=)	rs374609310	0.00007
NM_001009944.3(PKD1):c.5772C>T (p.Gly1924=)	rs541661201	0.00007
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=)	rs201085734
NM_001009944.3(PKD1):c.603C>T (p.His201=)	rs13334842
NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu)	rs141717814

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