List of variants in gene PKD1 reported as 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: 44

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)	rs1555455457	0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	rs1057518897	0.00001
NM_001009944.3(PKD1):c.10151C>G (p.Ser3384Ter)	rs1383556063
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)	rs1064794206
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)	rs1167476946
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)	rs1567153758
NM_001009944.3(PKD1):c.11412-2A>C	rs1555445771
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)	rs766551411
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)	rs777269070
NM_001009944.3(PKD1):c.1206_1207del (p.His403fs)	rs1567216675
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter)	rs199476094
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)	rs755496450
NM_001009944.3(PKD1):c.1286G>T (p.Trp429Leu)	rs1567216472
NM_001009944.3(PKD1):c.1722+1G>A	rs1567214706
NM_001009944.3(PKD1):c.1723-2A>G	rs1567214052
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)	rs1567212531
NM_001009944.3(PKD1):c.2098-1G>C	rs1567211807
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001009944.3(PKD1):c.2298_2308del (p.Cys767fs)	rs1567211181
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs)	rs1567210630
NM_001009944.3(PKD1):c.2966_2967insCC (p.Ala990fs)	rs1567207841
NM_001009944.3(PKD1):c.3128del (p.Val1043fs)	rs1567206632
NM_001009944.3(PKD1):c.384del (p.Glu128fs)	rs1567219155
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)	rs747362311
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)	rs1567200516
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter)	rs1264176877
NM_001009944.3(PKD1):c.5707C>T (p.Gln1903Ter)	rs942694907
NM_001009944.3(PKD1):c.5824del (p.Arg1942fs)	rs1567195285
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter)	rs1567195059
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter)	rs1555454739
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)	rs1555454411
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)	rs2432403
NM_001009944.3(PKD1):c.7490-2A>T	rs1567185163
NM_001009944.3(PKD1):c.7493G>A (p.Trp2498Ter)	rs1567185138
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)	rs797044902
NM_001009944.3(PKD1):c.755dup (p.Pro253fs)	rs1352019198
NM_001009944.3(PKD1):c.8017-2A>G	rs1567180640
NM_001009944.3(PKD1):c.8427del (p.Glu2810fs)	rs1567177760
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro)	rs1567177684
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter)	rs1567176750
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs)	rs1567173924
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter)	rs1485297878
NM_001009944.3(PKD1):c.964_965dup (p.His323fs)	rs1567217428
NM_001009944.3(PKD1):c.9914_9915del (p.Ser3305fs)	rs1567169638

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