List of variants in gene PKD1 reported as pathogenic by Molecular Biology Laboratory, Fundació Puigvert

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: 46

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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.10745dup (p.Val3584fs)	rs1555447011
NM_001009944.3(PKD1):c.10822-1G>C	rs2091715597
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter)	rs2091619053
NM_001009944.3(PKD1):c.1136dup (p.Asn379fs)	rs2092665918
NM_001009944.3(PKD1):c.11426dup (p.Ser3810fs)	rs2091601824
NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter)	rs199476098
NM_001009944.3(PKD1):c.11628_11629insA (p.Gly3877fs)	rs2091576236
NM_001009944.3(PKD1):c.11725_11740del (p.Leu3909fs)	rs2091500917
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter)	rs2091493090
NM_001009944.3(PKD1):c.1202-2A>T	rs2092662592
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)	rs764431330
NM_001009944.3(PKD1):c.12232del (p.Glu4078fs)	rs2091446343
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter)	rs2091437893
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)	rs199476095
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)	rs755496450
NM_001009944.3(PKD1):c.1669dup (p.Leu557fs)	rs2092640687
NM_001009944.3(PKD1):c.1700C>G (p.Ser567Ter)	rs765817015
NM_001009944.3(PKD1):c.1810C>T (p.Gln604Ter)	rs2092629130
NM_001009944.3(PKD1):c.2113C>T (p.Gln705Ter)	rs2092604224
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs)	rs1567210630
NM_001009944.3(PKD1):c.2542C>T (p.Gln848Ter)	rs2092595963
NM_001009944.3(PKD1):c.2659del (p.Trp887fs)	rs2092593850
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter)	rs1555457446
NM_001009944.3(PKD1):c.3067C>T (p.Gln1023Ter)	rs2092555939
NM_001009944.3(PKD1):c.3295+1G>T	rs2092536130
NM_001009944.3(PKD1):c.3607C>T (p.Gln1203Ter)	rs2092506242
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)	rs1567200516
NM_001009944.3(PKD1):c.4485dup (p.Ala1496fs)	rs2092478837
NM_001009944.3(PKD1):c.4550dup (p.Tyr1517Ter)	rs2092477162
NM_001009944.3(PKD1):c.5080del (p.His1694fs)	rs2092460002
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter)	rs1304952446
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter)	rs1485307916
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter)	rs1567186946
NM_001009944.3(PKD1):c.7249dup (p.Leu2417fs)	rs2092345946
NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter)	rs2092321142
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter)	rs764840802
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)	rs757768731
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)	rs1555459108
NM_001009944.3(PKD1):c.8897_8898del (p.Glu2966fs)	rs2092154654
NM_001009944.3(PKD1):c.8945del (p.Pro2982fs)	rs2092151870
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)	rs1555459084
NM_001009944.3(PKD1):c.9486dup (p.Asn3163fs)	rs2092049440
NM_001009944.3(PKD1):c.9568+1G>C	rs2092046394
NM_001009944.3(PKD1):c.9841del (p.Ala3281fs)	rs2092021706
NM_001009944.3:c.(287+1_288-1)_(12003+1_12004-1)del

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