ClinVar Miner

List of variants reported as uncertain significance for Renal hypodysplasia/aplasia 1 by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
Download table as spreadsheet
HGVS dbSNP
NM_006953.4(UPK3A):c.*107T>C rs558490093
NM_006953.4(UPK3A):c.*42C>T rs746035232
NM_006953.4(UPK3A):c.-26C>G rs768663033
NM_006953.4(UPK3A):c.202G>A (p.Asp68Asn) rs145186308
NM_006953.4(UPK3A):c.209-11C>T rs201838809
NM_006953.4(UPK3A):c.332G>A (p.Ser111Asn) rs765876533
NM_006953.4(UPK3A):c.359G>A (p.Gly120Glu)
NM_006953.4(UPK3A):c.361G>T (p.Asp121Tyr)
NM_006953.4(UPK3A):c.404G>A (p.Arg135Lys) rs147406393
NM_006953.4(UPK3A):c.418G>A (p.Gly140Arg) rs139626522
NM_006953.4(UPK3A):c.450C>A (p.Gly150=)
NM_006953.4(UPK3A):c.470C>T (p.Ser157Leu) rs200941092
NM_006953.4(UPK3A):c.480G>A (p.Thr160=)
NM_006953.4(UPK3A):c.560G>A (p.Arg187His) rs140649681
NM_006953.4(UPK3A):c.704+8C>A rs112177270
NM_006953.4(UPK3A):c.731C>T (p.Thr244Met) rs374008042
NM_006953.4(UPK3A):c.732G>A (p.Thr244=)
NM_006953.4(UPK3A):c.802T>C (p.Ser268Pro) rs886057606
NM_006953.4(UPK3A):c.818C>T (p.Pro273Leu) rs121918186
NM_020975.6(RET):c.*1020G>T rs886047004
NM_020975.6(RET):c.*1046G>C
NM_020975.6(RET):c.*1103C>T rs886047005
NM_020975.6(RET):c.*1109T>C rs886047006
NM_020975.6(RET):c.*1112A>G
NM_020975.6(RET):c.*1130A>G rs572936041
NM_020975.6(RET):c.*1212C>T rs551902553
NM_020975.6(RET):c.*1233T>C rs886047007
NM_020975.6(RET):c.*1278del rs886047008
NM_020975.6(RET):c.*1326T>C
NM_020975.6(RET):c.*1337A>T rs886047009
NM_020975.6(RET):c.*1345G>T rs886047010
NM_020975.6(RET):c.*1348G>A rs149252070
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.*1644G>C rs117119161
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.*1812C>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.*358G>T rs886046991
NM_020975.6(RET):c.*368G>T rs756051983
NM_020975.6(RET):c.*446A>G rs886046992
NM_020975.6(RET):c.*453G>T rs886046993
NM_020975.6(RET):c.*500C>G
NM_020975.6(RET):c.*506G>T rs886046995
NM_020975.6(RET):c.*509A>G rs886046996
NM_020975.6(RET):c.*538G>T rs886046997
NM_020975.6(RET):c.*553G>T rs886046998
NM_020975.6(RET):c.*600delinsTT rs1588882236
NM_020975.6(RET):c.*749dup rs886047000
NM_020975.6(RET):c.*763C>T rs886047001
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.*935C>A rs886047003
NM_020975.6(RET):c.-132G>T rs886046985
NM_020975.6(RET):c.-158G>A rs886046984
NM_020975.6(RET):c.-173A>G
NM_020975.6(RET):c.-187C>A rs886046983
NM_020975.6(RET):c.-51C>T
NM_020975.6(RET):c.1062T>C (p.Tyr354=)
NM_020975.6(RET):c.1109T>A (p.Met370Lys) rs886046987
NM_020975.6(RET):c.1119G>A (p.Ala373=) rs113931414
NM_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097
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.1420C>T (p.Arg474Trp) rs775842917
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.1699G>A (p.Asp567Asn) rs147219360
NM_020975.6(RET):c.1760-12G>A rs377767392
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.1920C>T (p.Ala640=) rs149768519
NM_020975.6(RET):c.2050C>T (p.Pro684Ser) rs141347316
NM_020975.6(RET):c.2052G>A (p.Pro684=) rs145122337
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.225G>A (p.Thr75=) rs151267865
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.2393-14C>T rs144269978
NM_020975.6(RET):c.2403C>T (p.Leu801=) rs1554819519
NM_020975.6(RET):c.2467G>A (p.Gly823Arg) rs138847998
NM_020975.6(RET):c.2523G>T (p.Pro841=) rs56195026
NM_020975.6(RET):c.2538C>T (p.Leu846=) rs201816539
NM_020975.6(RET):c.2580G>A (p.Gln860=) rs886046988
NM_020975.6(RET):c.2847A>G (p.Gly949=) rs886046989
NM_020975.6(RET):c.2876G>A (p.Arg959Gln) rs745650861
NM_020975.6(RET):c.2939+7G>A rs374565577
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.3243T>C (p.Asp1081=) rs144192900
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala) rs756465544
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.484C>T (p.Pro162Ser) rs1564490122
NM_020975.6(RET):c.487C>A (p.Arg163=) rs371153966
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.597C>T (p.Asn199=) rs55810667
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.693C>T (p.Arg231=) rs576806329
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.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.