ClinVar Miner

List of variants in gene RET reported as uncertain significance for Hirschsprung disease

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
Download table as spreadsheet
HGVS dbSNP
NM_020975.6(RET):c.*1109T>C rs886047006
NM_020975.6(RET):c.*1112A>G
NM_020975.6(RET):c.*1212C>T rs551902553
NM_020975.6(RET):c.*1430A>G
NM_020975.6(RET):c.*1489G>A rs535080963
NM_020975.6(RET):c.*1516C>T
NM_020975.6(RET):c.*1533A>G
NM_020975.6(RET):c.*159G>T
NM_020975.6(RET):c.*1646T>G rs886047011
NM_020975.6(RET):c.*1659T>C rs886047012
NM_020975.6(RET):c.*175C>G rs886046990
NM_020975.6(RET):c.*1797T>C rs886047013
NM_020975.6(RET):c.*1797T>G rs886047013
NM_020975.6(RET):c.*180G>A
NM_020975.6(RET):c.*1886T>G
NM_020975.6(RET):c.*1900C>A
NM_020975.6(RET):c.*29C>A
NM_020975.6(RET):c.*500C>G
NM_020975.6(RET):c.*506G>T rs886046995
NM_020975.6(RET):c.*538G>T rs886046997
NM_020975.6(RET):c.*824G>T rs886047002
NM_020975.6(RET):c.*84G>A rs558718557
NM_020975.6(RET):c.*883G>A
NM_020975.6(RET):c.1062T>C (p.Tyr354=)
NM_020975.6(RET):c.1109T>A (p.Met370Lys) rs886046987
NM_020975.6(RET):c.1151C>G (p.Pro384Arg) rs771679592
NM_020975.6(RET):c.1162G>A (p.Val388Ile) rs776223166
NM_020975.6(RET):c.1165C>T (p.Leu389Phe) rs895556824
NM_020975.6(RET):c.1264-8C>T rs769595884
NM_020975.6(RET):c.1326G>T (p.Leu442=)
NM_020975.6(RET):c.1424G>A (p.Arg475Gln) rs138624658
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996
NM_020975.6(RET):c.1462A>T (p.Thr488Ser) rs753733901
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) rs75873440
NM_020975.6(RET):c.1601T>C (p.Leu534Pro)
NM_020975.6(RET):c.1618A>G (p.Arg540Gly) rs543376293
NM_020975.6(RET):c.1649-4G>A rs369769303
NM_020975.6(RET):c.1702G>A (p.Gly568Ser) rs140464432
NM_020975.6(RET):c.1798C>T (p.Arg600Trp) rs745418960
NM_020975.6(RET):c.1879+13C>T rs375573788
NM_020975.6(RET):c.1879+14G>A rs532810255
NM_020975.6(RET):c.1880-5C>A
NM_020975.6(RET):c.1890C>T (p.Cys630=) rs781145070
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) rs377767406
NM_020975.6(RET):c.1920C>T (p.Ala640=) rs149768519
NM_020975.6(RET):c.2050C>T (p.Pro684Ser) rs141347316
NM_020975.6(RET):c.2070C>T (p.Ser690=) rs201550433
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224
NM_020975.6(RET):c.2129A>G (p.Lys710Arg) rs774983492
NM_020975.6(RET):c.220G>A (p.Gly74Ser) rs764938319
NM_020975.6(RET):c.2225C>T (p.Thr742Met) rs773256580
NM_020975.6(RET):c.2332G>A (p.Val778Ile) rs75686697
NM_020975.6(RET):c.235C>T (p.Arg79Trp) rs537523906
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417
NM_020975.6(RET):c.2403C>T (p.Leu801=) rs1554819519
NM_020975.6(RET):c.2454G>A (p.Glu818=) rs794727131
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333
NM_020975.6(RET):c.2523G>T (p.Pro841=) rs56195026
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568
NM_020975.6(RET):c.2538C>T (p.Leu846=) rs201816539
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911
NM_020975.6(RET):c.2876G>A (p.Arg959Gln) rs745650861
NM_020975.6(RET):c.2939+7G>A rs374565577
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.6(RET):c.2945G>A (p.Arg982His) rs368550200
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928
NM_020975.6(RET):c.2988G>A (p.Pro996=) rs145798106
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe) rs766330880
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) rs149513065
NM_020975.6(RET):c.3243T>C (p.Asp1081=) rs144192900
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala) rs756465544
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288
NM_020975.6(RET):c.334C>T (p.Arg112Cys) rs762626209
NM_020975.6(RET):c.432C>T (p.Arg144=) rs756999107
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451
NM_020975.6(RET):c.484C>T (p.Pro162Ser) rs1564490122
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139
NM_020975.6(RET):c.566G>A (p.Arg189His) rs753707182
NM_020975.6(RET):c.596A>G (p.Asn199Ser) rs886046986
NM_020975.6(RET):c.603C>T (p.Ser201=) rs780120451
NM_020975.6(RET):c.628G>A (p.Glu210Lys) rs1060500762
NM_020975.6(RET):c.718G>C (p.Val240Leu) rs375120544
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943
NM_020975.6(RET):c.867+4C>G
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891
NM_020975.6(RET):c.957C>A (p.Leu319=) rs149926238
NM_020975.6(RET):c.972G>C (p.Trp324Cys) rs758298916

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.