ClinVar Miner

List of variants reported as benign for Renal tubular dysgenesis by Illumina Laboratory Services, Illumina

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NC_000001.11:g.230705941T>C rs7080 0.94659
NM_000685.5(AGTR1):c.*798G>A rs380400 0.71156
NM_000789.4(ACE):c.*910A>G rs1055086 0.59649
NM_001382817.3(AGT):c.-30-3273G>A rs5051 0.58201
NC_000001.11:g.230710048A>G rs699 0.57702
NM_000789.4(ACE):c.2328G>A (p.Thr776=) rs4343 0.56401
NM_000789.4(ACE):c.3387T>C (p.Phe1129=) rs4362 0.51177
NM_000789.4(ACE):c.3692-6G>A rs4363 0.50850
NM_000789.4(ACE):c.2193A>G (p.Ala731=) rs4331 0.46564
NM_000789.4(ACE):c.2306-11A>C rs4342 0.45325
NM_000685.5(AGTR1):c.573C>T (p.Leu191=) rs5182 0.40342
NM_000789.4(ACE):c.1215C>T (p.Pro405=) rs4309 0.35804
NC_000001.11:g.230702585G>T rs7079 0.24948
NC_000001.11:g.230702512G>A rs2067853 0.24939
NM_000685.5(AGTR1):c.*86A>C rs5186 0.20976
NM_000537.4(REN):c.204A>C (p.Thr68=) rs5705 0.18456
NM_001382817.3(AGT):c.-30-3484G>A rs5049 0.16122
NM_000789.4(ACE):c.582C>T (p.Asn194=) rs4298 0.15457
NM_000685.5(AGTR1):c.1062A>G (p.Pro354=) rs5183 0.12761
NC_000001.11:g.230710231G>A rs4762 0.11089
NM_000789.4(ACE):c.655+13C>T rs4300 0.05754
NM_000685.5(AGTR1):c.*317G>A rs5188 0.03346
NM_000789.4(ACE):c.3380+5C>T rs12720737 0.03115
NM_000789.4(ACE):c.781G>T (p.Ala261Ser) rs4303 0.02833
NM_000685.5(AGTR1):c.*70T>G rs5185 0.02605
NM_000789.4(ACE):c.3906G>A (p.Glu1302=) rs4365 0.02561
NM_000789.4(ACE):c.*709G>A rs112901380 0.01965
NM_000537.4(REN):c.649G>A (p.Gly217Arg) rs11571117 0.01814
NM_000789.4(ACE):c.3691+5C>T rs12720744 0.01507
NM_000685.5(AGTR1):c.*135C>T rs1799870 0.01447
NM_000789.4(ACE):c.*586C>A rs74979666 0.01148
NM_000789.4(ACE):c.731A>G (p.Tyr244Cys) rs3730025 0.01121
NM_000537.4(REN):c.492+3A>G rs5706 0.01062
NM_000685.5(AGTR1):c.*461C>A rs12721276 0.01062
NM_000789.4(ACE):c.1119-8C>T rs114861086 0.00991
NM_000685.5(AGTR1):c.*93A>G rs5187 0.00946
NM_000789.4(ACE):c.2787C>T (p.Thr929=) rs4348 0.00917
NM_000537.4(REN):c.9A>T (p.Gly3=) rs5704 0.00866
NM_000789.4(ACE):c.780C>T (p.Arg260=) rs4302 0.00838
NM_000789.4(ACE):c.975G>T (p.Val325=) rs61738840 0.00783
NM_000789.4(ACE):c.970C>T (p.Arg324Trp) rs35141294 0.00781
NM_000789.4(ACE):c.1060G>A (p.Gly354Arg) rs56394458 0.00732
NM_000789.4(ACE):c.656-9C>T rs12720734 0.00679
NM_000789.4(ACE):c.847+12G>A rs12709422 0.00678
NM_000789.4(ACE):c.2382G>A (p.Ala794=) rs61738817 0.00669
NM_000789.4(ACE):c.2187G>T (p.Arg729=) rs35553988 0.00661
NM_000789.4(ACE):c.*505C>G rs111618613 0.00648
NM_000789.4(ACE):c.231G>A (p.Ala77=) rs184457276 0.00629
NM_000789.4(ACE):c.2550C>G (p.Leu850=) rs4975 0.00609
NM_000789.4(ACE):c.*894G>A rs78716020 0.00555
NM_031850.3(AGTR1):c.-329G>T rs148296224 0.00429
NC_000001.11:g.230706034G>A rs11568041 0.00418
NM_000789.4(ACE):c.417+8G>A rs114000559 0.00400
NM_000685.5(AGTR1):c.-184C>A rs2307085 0.00399
NC_000001.11:g.230710441G>A rs34829218 0.00316
NM_000789.4(ACE):c.1681C>T (p.Arg561Trp) rs4314 0.00316
NM_000685.5(AGTR1):c.730G>T (p.Ala244Ser) rs12721225 0.00235
NM_000789.4(ACE):c.479A>G (p.Asn160Ser) rs117134739 0.00056
NM_000789.4(ACE):c.5G>T (p.Gly2Val) rs558593002 0.00053
NM_000789.4(ACE):c.460G>A (p.Ala154Thr) rs13306087 0.00044
NM_000789.4(ACE):c.2791C>T (p.Leu931=) rs141180606 0.00013
NC_000001.11:g.230702983G>C rs4753
NC_000001.11:g.230704350T>C rs1926723
NM_000685.5(AGTR1):c.*437G>T rs5189
NM_000789.4(ACE):c.*728CT[3] rs4366
NM_000789.4(ACE):c.1341G>C (p.Thr447=) rs34241302
NM_000789.4(ACE):c.2518C>A (p.Arg840=) rs3730036
NM_000789.4(ACE):c.3856C>A (p.Arg1286Ser) rs4364

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