ClinVar Miner

List of variants reported as likely benign for renal tubular dysgenesis

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NC_000001.11:g.230705941T>C rs7080 0.94659
NM_000789.4(ACE):c.3387T>C (p.Phe1129=) rs4362 0.51177
NM_000685.5(AGTR1):c.*86A>C rs5186 0.20976
NC_000003.12:g.148743014T>G rs12721273 0.01716
NM_000789.4(ACE):c.1775A>G (p.Asp592Gly) rs12709426 0.01536
NM_000789.4(ACE):c.*591_*592del rs202110175 0.01419
NM_000537.4(REN):c.492+3A>G rs5706 0.01062
NM_000789.4(ACE):c.1119-8C>T rs114861086 0.00991
NM_000789.4(ACE):c.1060G>A (p.Gly354Arg) rs56394458 0.00732
NM_000789.4(ACE):c.2382G>A (p.Ala794=) rs61738817 0.00669
NM_000789.4(ACE):c.231G>A (p.Ala77=) rs184457276 0.00629
NM_000789.4(ACE):c.3836G>A (p.Arg1279Gln) rs4980 0.00541
NM_000789.4(ACE):c.1038G>C (p.Ser346=) rs34680431 0.00493
NM_000789.4(ACE):c.2979C>T (p.Ile993=) rs75067113 0.00452
NM_000789.4(ACE):c.2747C>T (p.Thr916Met) rs3730043 0.00420
NC_000001.11:g.230710441G>A rs34829218 0.00316
NM_000789.4(ACE):c.1681C>T (p.Arg561Trp) rs4314 0.00316
NC_000001.11:g.230706145G>A rs61757178 0.00280
NM_000789.4(ACE):c.3560C>T (p.Thr1187Met) rs12709442 0.00274
NM_000789.4(ACE):c.2392A>G (p.Ile798Val) rs117647476 0.00224
NM_000537.4(REN):c.22C>G (p.Pro8Ala) rs61746500 0.00222
NC_000001.11:g.230703101G>A rs5042 0.00207
NC_000001.11:g.230704308A>G rs61731499 0.00195
NM_000789.4(ACE):c.3801C>T (p.Ile1267=) rs144242912 0.00150
NM_000789.4(ACE):c.945+16A>G rs201274031 0.00142
NC_000001.11:g.230703274G>A rs61751077 0.00138
NM_000789.4(ACE):c.3489C>T (p.Ala1163=) rs4979 0.00130
NM_000685.5(AGTR1):c.193G>A (p.Val65Ile) rs111980524 0.00124
NC_000001.11:g.230703157G>A rs143479528 0.00123
NM_000789.4(ACE):c.799G>A (p.Gly267Arg) rs149412997 0.00111
NC_000001.11:g.230710700A>G rs61731497 0.00110
NM_000789.4(ACE):c.3363T>C (p.Ser1121=) rs200201337 0.00037
NM_000789.4(ACE):c.177G>A (p.Gln59=) rs147912715 0.00034
NM_000685.5(AGTR1):c.1017C>T (p.Tyr339=) rs138545856 0.00031
NM_000789.4(ACE):c.3691+10C>T rs556274739 0.00030
NM_000685.5(AGTR1):c.-239G>T rs547351627 0.00026
NM_000789.4(ACE):c.3656T>C (p.Leu1219Pro) rs140941300 0.00025
NC_000001.11:g.230702982C>T rs61751079 0.00024
NM_000789.4(ACE):c.682C>T (p.Arg228Cys) rs141543325 0.00022
NM_000789.4(ACE):c.1317G>T (p.Leu439=) rs140529617 0.00020
NM_000789.4(ACE):c.1459C>T (p.Arg487Cys) rs149784122 0.00019
NM_000789.4(ACE):c.2299G>A (p.Glu767Lys) rs148995315 0.00019
NM_000789.4(ACE):c.3321T>G (p.Thr1107=) rs144974035 0.00013
NM_000789.4(ACE):c.2483T>C (p.Met828Thr) rs13306091 0.00012
NM_000789.4(ACE):c.3381-4C>T rs201962955 0.00011
NM_000789.4(ACE):c.477C>T (p.Pro159=) rs201285321 0.00011
NM_001384479.1(AGT):c.830-20G>A rs371187328 0.00010
NM_000789.4(ACE):c.1020C>T (p.Pro340=) rs3730026 0.00009
NM_000685.5(AGTR1):c.487G>A (p.Ala163Thr) rs12721226 0.00007
NM_000789.4(ACE):c.140A>G (p.Gln47Arg) rs767353320 0.00007
NC_000001.11:g.230703204A>G rs371051808 0.00006
NM_000789.4(ACE):c.2858G>A (p.Arg953Gln) rs143507892 0.00006
NC_000001.11:g.230710461C>T rs752658346 0.00005
NM_001384479.1(AGT):c.264C>T (p.Thr88=) rs11557884 0.00004
NC_000001.11:g.230710542G>A rs756049025 0.00003
NM_000537.4(REN):c.249+18C>T rs377235534 0.00003
NM_000789.4(ACE):c.249+16C>G rs1568035049 0.00003
NM_000789.4(ACE):c.249+15C>G rs1392845930 0.00002
NC_000001.11:g.230710455G>A rs201189192 0.00001
NM_000789.4(ACE):c.*438G>T rs545604288 0.00001
NM_000789.4(ACE):c.928A>G (p.Ser310Gly) rs144137849 0.00001
NC_000001.11:g.230702930G>A rs371105256
NC_000001.11:g.230710823T>A rs199476082
NM_000537.4(REN):c.819-45TCTG[11] rs3839003
NM_000685.5(AGTR1):c.-17C>T
NM_000685.5(AGTR1):c.344G>C (p.Ser115Thr)
NM_000789.4(ACE):c.213C>G (p.His71Gln)
NM_000789.4(ACE):c.2518C>A (p.Arg840=) rs3730036
NM_000789.4(ACE):c.2952G>A (p.Val984=) rs3730044
NM_000789.4(ACE):c.44CGCTGC[3] (p.15PL[3]) rs532691783
NM_000789.4(ACE):c.955G>T (p.Ala319Ser) rs34126458
NM_001382817.3(AGT):c.-30-3287A>C rs5050
NM_001382817.3(AGT):c.-30-3419G>A rs11568020
NM_001384479.1(AGT):c.906C>A rs776504572

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