ClinVar Miner

List of variants reported as likely benign for Renal tubular dysgenesis

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Total variants: 36
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HGVS dbSNP gnomAD frequency
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_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.2747C>T (p.Thr916Met) rs3730043 0.00420
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
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
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.-239G>T rs547351627 0.00026
NC_000001.11:g.230702982C>T rs61751079 0.00024
NM_000789.4(ACE):c.1459C>T (p.Arg487Cys) rs149784122 0.00019
NM_000789.4(ACE):c.477C>T (p.Pro159=) rs201285321 0.00011
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
NM_000789.4(ACE):c.2858G>A (p.Arg953Gln) rs143507892 0.00006
NM_000789.4(ACE):c.*438G>T rs545604288 0.00001
NC_000001.11:g.230702930G>A rs371105256
NC_000001.11:g.230710823T>A rs199476082
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

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