ClinVar Miner

List of variants reported as uncertain significance by Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val) rs972049140 0.00046
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_001009944.3(PKD1):c.10939C>T (p.Arg3647Trp) rs181927900 0.00025
NM_001009944.3(PKD1):c.3994G>A (p.Asp1332Asn) rs773388081 0.00015
NM_198334.3(GANAB):c.2093G>A (p.Arg698Gln) rs765000469 0.00004
NM_001009944.3(PKD1):c.6605C>T (p.Ala2202Val) rs764264106 0.00003
NM_001009944.3(PKD1):c.11972C>T (p.Ala3991Val) rs761577523 0.00002
NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys) rs765408067 0.00002
NM_138694.4(PKHD1):c.8776C>T (p.Arg2926Trp) rs757650951 0.00002
NM_000548.5(TSC2):c.175C>T (p.Arg59Trp) rs1015282988 0.00001
NM_000548.5(TSC2):c.3816G>A (p.Val1272=) rs45517314 0.00001
NM_000548.5(TSC2):c.4534G>A (p.Asp1512Asn) rs774441486 0.00001
NM_001009944.3(PKD1):c.167T>C (p.Leu56Pro) rs2092940195 0.00001
NM_001009944.3(PKD1):c.6637C>T (p.Arg2213Trp) rs757222149 0.00001
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) rs1456510041 0.00001
NM_000297.4(PKD2):c.2807del (p.Asn936fs) rs1721203306
NM_000297.4(PKD2):c.709+6T>G rs1726679832
NM_001009944.3(PKD1):c.10036A>T (p.Met3346Leu) rs2092006341
NM_001009944.3(PKD1):c.10405+5G>T rs2091888953
NM_001009944.3(PKD1):c.10407T>A (p.Asp3469Glu) rs373139880
NM_001009944.3(PKD1):c.11105A>C (p.Gln3702Pro) rs2091668585
NM_001009944.3(PKD1):c.11399C>G (p.Pro3800Arg) rs2091613857
NM_001009944.3(PKD1):c.11539A>C (p.Ser3847Arg) rs2091581338
NM_001009944.3(PKD1):c.11579C>T (p.Ala3860Val) rs2091579119
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His) rs1382845038
NM_001009944.3(PKD1):c.3294_3295delinsTT (p.Gly1099Cys) rs2092536146
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3483G>T (p.Trp1161Cys) rs1483748105
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg) rs2092478372
NM_001009944.3(PKD1):c.4592A>G (p.Asn1531Ser) rs2092476327
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.5855G>A (p.Gly1952Asp) rs2092441433
NM_001009944.3(PKD1):c.6025T>C (p.Ser2009Pro) rs2092436796
NM_001009944.3(PKD1):c.6229G>C (p.Ala2077Pro) rs1322095511
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.7409C>T (p.Pro2470Leu) rs539143745
NM_001009944.3(PKD1):c.7483T>A (p.Cys2495Ser) rs2092338268
NM_001009944.3(PKD1):c.7489+5G>A rs2092337963
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.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.8471A>G (p.Gln2824Arg)
NM_001009944.3(PKD1):c.8531T>C (p.Val2844Ala) rs2092191959
NM_001009944.3(PKD1):c.8543T>C (p.Val2848Ala) rs2092191294
NM_001009944.3(PKD1):c.9590T>C (p.Leu3197Pro) rs2092039709
NM_001009944.3(PKD1):c.9695A>G (p.Lys3232Arg) rs988225678
NM_001289104.2(PRKCSH):c.1281C>G (p.Thr427=) rs1970438676
NM_001289104.2(PRKCSH):c.1411A>G (p.Lys471Glu) rs1970467790
NM_138694.4(PKHD1):c.6800T>C (p.Leu2267Pro) rs1782058832
NM_198334.3(GANAB):c.1142G>C (p.Ser381Thr) rs1043983959
NM_198334.3(GANAB):c.850G>A (p.Val284Met) rs1943745805

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