ClinVar Miner

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

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Total variants: 41
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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.4073C>T (p.Ala1358Val) rs376991027 0.00015
NM_001009944.3(PKD1):c.4049C>T (p.Thr1350Met) rs777460980 0.00003
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.8279T>C (p.Met2760Thr) rs879809222 0.00001
NM_001009944.3(PKD1):c.9505C>T (p.Arg3169Trp) rs765180455 0.00001
NM_001009944.3(PKD1):c.-39G>T
NM_001009944.3(PKD1):c.10036A>T (p.Met3346Leu) rs2092006341
NM_001009944.3(PKD1):c.11270-5T>C
NM_001009944.3(PKD1):c.11539A>C (p.Ser3847Arg) rs2091581338
NM_001009944.3(PKD1):c.11746G>T (p.Val3916Leu)
NM_001009944.3(PKD1):c.12138+5G>A
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.2573C>T (p.Thr858Met)
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.529+5G>A rs2544882689
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.8017-3C>G rs780785813
NM_001009944.3(PKD1):c.8224G>A (p.Glu2742Lys) rs202159463
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) rs1567177613
NM_001009944.3(PKD1):c.8669_8670insTGCCAACTC (p.Ser2896_Val2897insAlaAsnSer)
NM_001009944.3(PKD1):c.9201+3G>C
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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