ClinVar Miner

List of variants in gene EGF reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_001963.6(EGF):c.*561G>C rs11569147 0.00412
NM_001963.6(EGF):c.1602G>A (p.Lys534=) rs140682556 0.00197
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.-60C>T rs191144589 0.00096
NM_001963.6(EGF):c.*67A>G rs572682450 0.00093
NM_001963.6(EGF):c.3292-7T>C rs200524686 0.00087
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.1097G>A (p.Gly366Asp) rs143612590 0.00061
NM_001963.6(EGF):c.1416T>A (p.Asp472Glu) rs149448320 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.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.-361C>G rs961372411 0.00019
NM_001963.6(EGF):c.1575+6G>T rs148355596 0.00017
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.47G>C (p.Ser16Thr) rs200394315 0.00014
NM_001963.6(EGF):c.1404C>T (p.Asp468=) rs201101453 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.-140A>G rs543779474 0.00009
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.3073G>T (p.Ala1025Ser) rs149056615 0.00006
NM_001963.6(EGF):c.3286C>T (p.Pro1096Ser) rs754959264 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.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.*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.*925_*926del rs796545471
NM_001963.6(EGF):c.*926dup rs796545471
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.1066+12A>G rs1745336251
NM_001963.6(EGF):c.1140C>T (p.Cys380=) rs886058991
NM_001963.6(EGF):c.1258T>G (p.Leu420Val) rs368476089
NM_001963.6(EGF):c.1575+6G>A rs148355596
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.742A>G (p.Asn248Asp) rs1742606306
NM_001963.6(EGF):c.791G>A (p.Trp264Ter) rs867950317

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