ClinVar Miner

List of variants studied for Renal tubular dysgenesis of genetic origin

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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_001382817.3(AGT):c.-30-3273G>A rs5051 0.58201
NM_000789.4(ACE):c.2747C>T (p.Thr916Met) rs3730043 0.00420
NM_000685.5(AGTR1):c.730G>T (p.Ala244Ser) rs12721225 0.00235
NC_000001.11:g.230704288G>T rs1805090 0.00134
NM_000789.4(ACE):c.1979C>G (p.Ser660Cys) rs147429960 0.00098
NM_000789.4(ACE):c.1142C>T (p.Thr381Met) rs150466411 0.00075
NM_000789.4(ACE):c.863A>G (p.Gln288Arg) rs199591851 0.00064
NC_000001.11:g.230710724G>A rs41271499 0.00037
NM_000789.4(ACE):c.465G>C (p.Lys155Asn) rs143320537 0.00034
NM_001384479.1(AGT):c.185C>T (p.Pro62Leu) rs112711075 0.00032
NM_000789.4(ACE):c.1444C>T (p.Arg482Cys) rs201540553 0.00028
NC_000001.11:g.230703298G>A rs61751076 0.00026
NC_000001.11:g.230710439C>A rs61762539 0.00021
NM_001384479.1(AGT):c.763G>A (p.Gly255Ser) rs147721058 0.00021
NM_000789.4(ACE):c.1459C>T (p.Arg487Cys) rs149784122 0.00019
NM_001384479.1(AGT):c.817G>A (p.Val273Ile) rs374407232 0.00019
NC_000001.11:g.230706003C>T rs150452789 0.00018
NM_001384479.1(AGT):c.862C>T rs61762530 0.00013
NM_001384479.1(AGT):c.-24C>T rs764314612 0.00009
NM_001384479.1(AGT):c.1403G>A (p.Arg468His) rs146284519 0.00009
NM_001384479.1(AGT):c.382A>G (p.Thr128Ala) rs138340265 0.00007
NM_001384479.1(AGT):c.856G>T rs377397992 0.00007
NM_001384479.1(AGT):c.594G>A (p.Thr198=) rs753554545 0.00006
NM_001384479.1(AGT):c.1195G>A rs886046081 0.00005
NM_001384479.1(AGT):c.603C>T (p.Gly201=) rs537300845 0.00005
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter) rs367797185 0.00004
NM_001384479.1(AGT):c.13G>A (p.Gly5Ser) rs377164467 0.00004
NM_000789.4(ACE):c.583G>A (p.Ala195Thr) rs767340249 0.00003
NM_001384479.1(AGT):c.1405G>A (p.Val469Met) rs766166368 0.00003
NM_001384479.1(AGT):c.234G>T (p.Gln78His) rs770446406 0.00003
NM_001384479.1(AGT):c.370G>A (p.Val124Ile) rs559327874 0.00003
NM_000685.5(AGTR1):c.221A>C (p.Asp74Ala) rs748117430 0.00002
NM_000685.5(AGTR1):c.113T>C (p.Ile38Thr) rs751575775 0.00001
NM_000789.4(ACE):c.1342+1G>T rs1404223383 0.00001
NM_001384479.1(AGT):c.103G>A (p.Val35Ile) rs146773738 0.00001
NM_001384479.1(AGT):c.494G>A (p.Arg165Gln) rs564074355 0.00001
NM_001384479.1(AGT):c.770C>T (p.Ser257Phe) rs779634377 0.00001
NM_001384479.1(AGT):c.829+1G>T rs747815674 0.00001
NC_000001.11:g.230710823T>A rs199476082
NM_000685.5(AGTR1):c.415C>T (p.Arg139Ter) rs1417391173
NM_000685.5(AGTR1):c.761T>A (p.Ile254Asn) rs2107975615
NM_000789.4(ACE):c.109G>C (p.Gly37Arg) rs1401848309
NM_000789.4(ACE):c.1681C>A (p.Arg561=)
NM_000789.4(ACE):c.1852G>A (p.Gly618Ser)
NM_000789.4(ACE):c.1882T>C (p.Trp628Arg)
NM_000789.4(ACE):c.2062C>T (p.Gln688Ter)
NM_000789.4(ACE):c.21_30del (p.Arg8fs)
NM_000789.4(ACE):c.2570G>A (p.Arg857His) rs146089353
NM_000789.4(ACE):c.2T>C (p.Met1Thr) rs1005792910
NM_000789.4(ACE):c.2T>G (p.Met1Arg) rs1005792910
NM_000789.4(ACE):c.3409C>T (p.Gln1137Ter) rs1341633213
NM_000789.4(ACE):c.3503+1G>C rs779188587
NM_000789.4(ACE):c.3533C>T (p.Pro1178Leu)
NM_000789.4(ACE):c.3G>T (p.Met1Ile) rs2510680823
NM_000789.4(ACE):c.798C>A (p.Tyr266Ter) rs121912704
NM_000789.4(ACE):c.973del (p.Val325fs) rs2510687443
NM_001384479.1(AGT):c.-17G>C rs61762541
NM_001384479.1(AGT):c.-7G>T
NM_001384479.1(AGT):c.1011G>T (p.Gln337His)
NM_001384479.1(AGT):c.1033G>A (p.Asp345Asn)
NM_001384479.1(AGT):c.1065C>A (p.Asn355Lys)
NM_001384479.1(AGT):c.1072A>G (p.Asn358Asp)
NM_001384479.1(AGT):c.1096C>T (p.Arg366Trp)
NM_001384479.1(AGT):c.1097G>T (p.Arg366Leu) rs74315283
NM_001384479.1(AGT):c.1098-15_1098-14delinsTT
NM_001384479.1(AGT):c.1117C>G (p.Pro373Ala)
NM_001384479.1(AGT):c.1130T>A (p.Leu377Gln)
NM_001384479.1(AGT):c.1180_1182dup (p.Ala394dup) rs562507867
NM_001384479.1(AGT):c.1195G>T (p.Glu399Ter)
NM_001384479.1(AGT):c.1210A>G (p.Lys404Glu)
NM_001384479.1(AGT):c.1212del (p.Lys404fs)
NM_001384479.1(AGT):c.1264G>T (p.Glu422Ter)
NM_001384479.1(AGT):c.1286_1287del (p.Glu429fs)
NM_001384479.1(AGT):c.130C>G (p.Gln44Glu)
NM_001384479.1(AGT):c.1314C>A (p.Asn438Lys)
NM_001384479.1(AGT):c.1318C>T (p.Pro440Ser)
NM_001384479.1(AGT):c.1361C>T (p.Ala454Val)
NM_001384479.1(AGT):c.1415C>A (p.Pro472Gln)
NM_001384479.1(AGT):c.146A>G (p.Asn49Ser)
NM_001384479.1(AGT):c.21C>A (p.Ser7Arg)
NM_001384479.1(AGT):c.21C>T (p.Ser7=) rs141762950
NM_001384479.1(AGT):c.224T>C (p.Leu75Pro)
NM_001384479.1(AGT):c.22C>A (p.Leu8Met)
NM_001384479.1(AGT):c.242T>A (p.Leu81Gln)
NM_001384479.1(AGT):c.283G>A (p.Ala95Thr)
NM_001384479.1(AGT):c.292G>A (p.Gly98Arg)
NM_001384479.1(AGT):c.320G>A (p.Arg107His)
NM_001384479.1(AGT):c.352G>A (p.Val118Met)
NM_001384479.1(AGT):c.384G>A (p.Thr128=)
NM_001384479.1(AGT):c.413A>G (p.Tyr138Cys)
NM_001384479.1(AGT):c.425T>G (p.Leu142Trp)
NM_001384479.1(AGT):c.439G>C (p.Asp147His)
NM_001384479.1(AGT):c.440A>G (p.Asp147Gly)
NM_001384479.1(AGT):c.477C>A (p.Asp159Glu)
NM_001384479.1(AGT):c.491C>A (p.Ser164Tyr)
NM_001384479.1(AGT):c.493C>T (p.Arg165Trp)
NM_001384479.1(AGT):c.502G>A (p.Ala168Thr)
NM_001384479.1(AGT):c.505C>T (p.His169Tyr)
NM_001384479.1(AGT):c.536A>T (p.Gln179Leu)
NM_001384479.1(AGT):c.545T>C (p.Leu182Pro)
NM_001384479.1(AGT):c.617C>T (p.Pro206Leu)
NM_001384479.1(AGT):c.638C>A (p.Pro213Gln)
NM_001384479.1(AGT):c.638C>T (p.Pro213Leu)
NM_001384479.1(AGT):c.650G>A (p.Gly217Asp)
NM_001384479.1(AGT):c.698C>T (p.Thr233Ile)
NM_001384479.1(AGT):c.708T>A (p.Asp236Glu)
NM_001384479.1(AGT):c.749del (p.Thr250fs) rs2527714738
NM_001384479.1(AGT):c.754T>C (p.Trp252Arg)
NM_001384479.1(AGT):c.816C>G (p.Tyr272Ter)
NM_001384479.1(AGT):c.827A>T (p.Gln276Leu)
NM_001384479.1(AGT):c.836T>G (p.Met279Arg)
NM_001384479.1(AGT):c.845T>A (p.Phe282Tyr)
NM_001384479.1(AGT):c.887G>A (p.Ser296Asn)
NM_001384479.1(AGT):c.937T>C (p.Trp313Arg)
NM_001384479.1(AGT):c.962C>G (p.Ser321Trp)
NM_001384479.1(AGT):c.987G>C (p.Glu329Asp)
NM_001384479.1(AGT):c.989G>A (p.Ser330Asn)
NM_001384479.1(AGT):c.990C>G (p.Ser330Arg)

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