ClinVar Miner

List of variants in gene EGF studied for inherited renal tubular disease

Included ClinVar conditions (192):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_001963.6(EGF):c.2759A>T (p.Glu920Val) rs4698803 0.86043
NM_001963.6(EGF):c.-382A>G rs4444903 0.50533
NM_001963.6(EGF):c.940+11G>A rs4698756 0.38374
NM_001963.6(EGF):c.*1244T>C rs7653900 0.27706
NM_001963.6(EGF):c.1292G>A (p.Arg431Lys) rs11568943 0.12520
NM_001963.6(EGF):c.*393T>C rs3733625 0.06413
NM_001963.6(EGF):c.1977C>T (p.Cys659=) rs11568993 0.05347
NM_001963.6(EGF):c.*1222A>G rs11569149 0.03967
NM_001963.6(EGF):c.2525T>C (p.Met842Thr) rs11569046 0.03492
NM_001963.6(EGF):c.*483C>T rs11569146 0.02943
NM_001963.6(EGF):c.264C>T (p.Ile88=) rs11568885 0.02517
NM_001963.6(EGF):c.1095T>C (p.His365=) rs11568937 0.02456
NM_001963.6(EGF):c.451C>T (p.His151Tyr) rs9991664 0.01890
NM_001963.6(EGF):c.1380A>G (p.Glu460=) rs11568953 0.01036
NM_001963.6(EGF):c.1313-10G>T rs11568952 0.00915
NM_001963.6(EGF):c.3521C>A (p.Thr1174Asn) rs28592692 0.00844
NM_001963.6(EGF):c.-424G>A rs35397046 0.00832
NM_001963.6(EGF):c.*1266T>A rs11569150 0.00776
NM_001963.6(EGF):c.2609-5C>A rs74379237 0.00628
NM_001963.6(EGF):c.1914C>G (p.Ser638Arg) rs11568992 0.00601
NM_001963.6(EGF):c.769G>C (p.Asp257His) rs11568911 0.00565
NM_001963.6(EGF):c.875T>A (p.Leu292His) rs35191533 0.00553
NM_001963.6(EGF):c.46A>C (p.Ser16Arg) rs11568849 0.00538
NM_001963.6(EGF):c.*1435T>C rs11569151 0.00474
NM_001963.6(EGF):c.3251C>G (p.Ala1084Gly) rs11569111 0.00414
NM_001963.6(EGF):c.*561G>C rs11569147 0.00412
NM_001963.6(EGF):c.3118G>A (p.Val1040Met) rs75935899 0.00325
NM_001963.6(EGF):c.2433G>A (p.Val811=) rs149396988 0.00314
NM_001963.6(EGF):c.*42C>T rs11569145 0.00288
NM_001963.6(EGF):c.1789A>G (p.Ile597Val) rs41482245 0.00245
NM_001963.6(EGF):c.1602G>A (p.Lys534=) rs140682556 0.00197
NM_001963.6(EGF):c.1723G>A (p.Gly575Arg) rs115396821 0.00185
NM_001963.6(EGF):c.2491+20C>A rs11569030 0.00183
NM_001963.6(EGF):c.*929G>A rs112147938 0.00148
NM_001963.6(EGF):c.3371-4A>G rs41468451 0.00123
NM_001963.6(EGF):c.*1265T>A rs537226223 0.00114
NM_001963.6(EGF):c.3006-11T>G rs199756953 0.00114
NM_001963.6(EGF):c.3189A>G (p.Leu1063=) rs41456944 0.00110
NM_001963.6(EGF):c.-102G>A rs11568848 0.00108
NM_001963.6(EGF):c.-60C>T rs191144589 0.00096
NM_001963.6(EGF):c.*67A>G rs572682450 0.00093
NM_001963.6(EGF):c.941-9C>A rs147880662 0.00088
NM_001963.6(EGF):c.3292-7T>C rs200524686 0.00087
NM_001963.6(EGF):c.-447G>A rs56399752 0.00081
NM_001963.6(EGF):c.3530G>C (p.Gly1177Ala) rs140730971 0.00080
NM_001963.6(EGF):c.662G>C (p.Arg221Thr) rs144437729 0.00065
NM_001963.6(EGF):c.*1118A>C rs183204371 0.00064
NM_001963.6(EGF):c.1097G>A (p.Gly366Asp) rs143612590 0.00061
NM_001963.6(EGF):c.891A>C (p.Val297=) rs146585233 0.00061
NM_001963.6(EGF):c.*1283C>T rs193265825 0.00041
NM_001963.6(EGF):c.1416T>A (p.Asp472Glu) rs149448320 0.00041
NM_001963.6(EGF):c.978C>T (p.Ser326=) rs145706760 0.00041
NM_001963.6(EGF):c.2940C>T (p.His980=) rs140319442 0.00034
NM_001963.6(EGF):c.*1305T>C rs989074262 0.00030
NM_001963.6(EGF):c.*411A>G rs886058998 0.00030
NM_001963.6(EGF):c.*1356T>C rs749675346 0.00024
NM_001963.6(EGF):c.1919A>G (p.Asp640Gly) rs376974586 0.00023
NM_001963.6(EGF):c.1491T>C (p.His497=) rs377445081 0.00022
NM_001963.6(EGF):c.*361T>C rs542979630 0.00021
NM_001963.6(EGF):c.2760G>A (p.Glu920=) rs760507781 0.00021
NM_001963.6(EGF):c.737+11C>T rs374147711 0.00021
NM_001963.6(EGF):c.-361C>G rs961372411 0.00019
NM_001963.6(EGF):c.1354G>A (p.Val452Ile) rs142751045 0.00019
NM_001963.6(EGF):c.1575+6G>T rs148355596 0.00017
NM_001963.6(EGF):c.1066+10G>C rs76435576 0.00015
NM_001963.6(EGF):c.1821A>G (p.Pro607=) rs200400376 0.00015
NM_001963.6(EGF):c.1684G>C (p.Val562Leu) rs769513396 0.00014
NM_001963.6(EGF):c.3099C>T (p.Val1033=) rs144628857 0.00014
NM_001963.6(EGF):c.47G>C (p.Ser16Thr) rs200394315 0.00014
NM_001963.6(EGF):c.1404C>T (p.Asp468=) rs201101453 0.00013
NM_001963.6(EGF):c.464G>A (p.Ser155Asn) rs150361543 0.00013
NM_001963.6(EGF):c.-228G>C rs1052738578 0.00012
NM_001963.6(EGF):c.*1005A>G rs11569148 0.00010
NM_001963.6(EGF):c.-283G>C rs886058988 0.00010
NM_001963.6(EGF):c.*446C>T rs534531408 0.00009
NM_001963.6(EGF):c.-140A>G rs543779474 0.00009
NM_001963.6(EGF):c.2378A>T (p.Glu793Val) rs369597497 0.00009
NM_001963.6(EGF):c.192C>A (p.Thr64=) rs367667834 0.00008
NM_001963.6(EGF):c.720T>C (p.Ile240=) rs200702456 0.00008
NM_001963.6(EGF):c.*1068G>A rs928256231 0.00007
NM_001963.6(EGF):c.*937G>T rs1239951931 0.00007
NM_001963.6(EGF):c.*184A>C rs886058997 0.00006
NM_001963.6(EGF):c.1052G>A (p.Arg351Gln) rs200099199 0.00006
NM_001963.6(EGF):c.1190-10T>C rs373046487 0.00006
NM_001963.6(EGF):c.3073G>T (p.Ala1025Ser) rs149056615 0.00006
NM_001963.6(EGF):c.638G>A (p.Arg213Gln) rs373552129 0.00006
NM_001963.6(EGF):c.3286C>T (p.Pro1096Ser) rs754959264 0.00005
NM_001963.6(EGF):c.887A>C (p.Lys296Thr) rs760127815 0.00005
NM_001963.6(EGF):c.1137C>T (p.Tyr379=) rs971946479 0.00004
NM_001963.6(EGF):c.1180C>T (p.Arg394Ter) rs369702571 0.00004
NM_001963.6(EGF):c.1851A>G (p.Thr617=) rs763336139 0.00004
NM_001963.6(EGF):c.1864C>T (p.Arg622Ter) rs759896124 0.00004
NM_001963.6(EGF):c.2742T>C (p.Asp914=) rs886058993 0.00004
NM_001963.6(EGF):c.*1001C>G rs765122805 0.00003
NM_001963.6(EGF):c.*18A>G rs745325610 0.00003
NM_001963.6(EGF):c.*201A>C rs539507877 0.00003
NM_001963.6(EGF):c.2755G>A (p.Gly919Arg) rs886058994 0.00003
NM_001963.6(EGF):c.3110C>T (p.Ala1037Val) rs572990451 0.00003
NM_001963.6(EGF):c.3209C>T (p.Pro1070Leu) rs121434567 0.00003
NM_001963.6(EGF):c.1480C>T (p.Arg494Ter) rs753726274 0.00002
NM_001963.6(EGF):c.*107C>T rs886058996 0.00001
NM_001963.6(EGF):c.*1220G>A rs1057034963 0.00001
NM_001963.6(EGF):c.127+14T>A rs746259663 0.00001
NM_001963.6(EGF):c.1818T>C (p.His606=) rs139266578 0.00001
NM_001963.6(EGF):c.2682T>G (p.Gly894=) rs758073460 0.00001
NM_001963.6(EGF):c.3371-12T>C rs570903296 0.00001
NM_001963.6(EGF):c.57T>C (p.Ser19=) rs767958539 0.00001
NM_001963.6(EGF):c.731C>A (p.Pro244Gln) rs1232857341 0.00001
NM_001963.6(EGF):c.835G>A (p.Asp279Asn) rs778787208 0.00001
NM_001963.6(EGF):c.*157G>A rs190671898
NM_001963.6(EGF):c.*479T>C rs548932345
NM_001963.6(EGF):c.*835G>A rs886058999
NM_001963.6(EGF):c.-127A>C rs886058990
NM_001963.6(EGF):c.-265G>T rs886058989
NM_001963.6(EGF):c.-270T>G rs901572263
NM_001963.6(EGF):c.-273T>C rs1735992492
NM_001963.6(EGF):c.-342C>G rs11568847
NM_001963.6(EGF):c.-78A>G rs149835886
NM_001963.6(EGF):c.1066+12A>G rs1745336251
NM_001963.6(EGF):c.1258T>G (p.Leu420Val) rs368476089
NM_001963.6(EGF):c.1336G>A (p.Gly446Arg) rs1560698635
NM_001963.6(EGF):c.1575+6G>A rs148355596
NM_001963.6(EGF):c.1725-12C>A rs11568990
NM_001963.6(EGF):c.2608+14G>A rs886058992
NM_001963.6(EGF):c.3162C>G (p.Ala1054=) rs548762791
NM_001963.6(EGF):c.3346G>T (p.Gly1116Cys) rs886058995
NM_001963.6(EGF):c.556G>C (p.Asp186His) rs28553469
NM_001963.6(EGF):c.742A>G (p.Asn248Asp) rs1742606306
NM_001963.6(EGF):c.791G>A (p.Trp264Ter) rs867950317
NM_001963.6(EGF):c.803C>A (p.Thr268Lys) rs1742618428
NM_001963.6(EGF):c.940+11_940+12inv

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