List of variants in gene PKD1 reported as uncertain significance for Autosomal dominant polycystic kidney disease

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val)	rs972049140	0.00046
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)	rs201991587	0.00035
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)	rs148812376	0.00032
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala)	rs201409107	0.00018
NM_001009944.3(PKD1):c.6605C>T (p.Ala2202Val)	rs764264106	0.00003
NM_001009944.3(PKD1):c.12632A>C (p.Glu4211Ala)	rs2091400377	0.00001
NM_001009944.3(PKD1):c.167T>C (p.Leu56Pro)	rs2092940195	0.00001
NM_001009944.3(PKD1):c.3962C>T (p.Pro1321Leu)	rs779379060	0.00001
NM_001009944.3(PKD1):c.6637C>T (p.Arg2213Trp)	rs757222149	0.00001
NM_001009944.3(PKD1):c.10036A>T (p.Met3346Leu)	rs2092006341
NM_001009944.3(PKD1):c.11539A>C (p.Ser3847Arg)	rs2091581338
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys)	rs1282668884
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)	rs2855341
NM_001009944.3(PKD1):c.1398_1403del (p.Trp467_Ile468del)	rs2151820984
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His)	rs1382845038
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del)	rs2151806438
NM_001009944.3(PKD1):c.3955G>C (p.Gly1319Arg)	rs747362311
NM_001009944.3(PKD1):c.6557G>C (p.Arg2186Pro)	rs1046305889
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro)	rs1567218310
NM_001009944.3(PKD1):c.7844T>C (p.Leu2615Pro)	rs2151769881
NM_001009944.3(PKD1):c.7969A>C (p.Thr2657Pro)	rs557020044
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr)	rs879809222
NM_001009944.3(PKD1):c.8282G>C (p.Arg2761Pro)	rs145629362
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr)	rs1596527405
NM_001009944.3(PKD1):c.8471A>G (p.Gln2824Arg)
NM_001009944.3(PKD1):c.9590T>C (p.Leu3197Pro)	rs2092039709
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe)	rs1422698524
NM_001009944.3(PKD1):c.9695A>G (p.Lys3232Arg)	rs988225678

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