ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.*1812C>A rs183817000 0.00220
NM_006953.4(UPK3A):c.*107T>C rs558490093 0.00160
NM_006953.4(UPK3A):c.818C>T (p.Pro273Leu) rs121918186 0.00136
NM_020975.6(RET):c.*1130A>G rs572936041 0.00112
NM_020975.6(RET):c.-132G>T rs886046985 0.00103
NM_020975.6(RET):c.1119G>A (p.Ala373=) rs113931414 0.00079
NM_006953.4(UPK3A):c.202G>A (p.Asp68Asn) rs145186308 0.00057
NM_020975.6(RET):c.*1430A>G rs775114955 0.00053
NM_020975.6(RET):c.225G>A (p.Thr75=) rs151267865 0.00052
NM_020975.6(RET):c.*29C>A rs199639914 0.00050
NM_020975.6(RET):c.*1644G>C rs117119161 0.00043
NM_020975.6(RET):c.*1348G>A rs149252070 0.00039
NM_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097 0.00034
NM_006953.4(UPK3A):c.404G>A (p.Arg135Lys) rs147406393 0.00031
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_020975.6(RET):c.*84G>A rs558718557 0.00022
NM_006953.4(UPK3A):c.450C>A (p.Gly150=) rs147160242 0.00021
NM_006953.4(UPK3A):c.-26C>G rs768663033 0.00019
NM_020975.6(RET):c.*1516C>T rs886985086 0.00019
NM_020975.6(RET):c.2052G>A (p.Pro684=) rs145122337 0.00019
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_020975.6(RET):c.2988G>A (p.Pro996=) rs145798106 0.00014
NM_006953.4(UPK3A):c.731C>T (p.Thr244Met) rs374008042 0.00013
NM_020975.6(RET):c.-51C>T rs765384640 0.00012
NM_020975.6(RET):c.597C>T (p.Asn199=) rs55810667 0.00012
NM_006953.4(UPK3A):c.209-11C>T rs201838809 0.00011
NM_020975.6(RET):c.957C>A (p.Leu319=) rs149926238 0.00011
NM_020975.6(RET):c.3243T>C (p.Asp1081=) rs144192900 0.00010
NM_006953.4(UPK3A):c.480G>A (p.Thr160=) rs200247042 0.00008
NM_020975.6(RET):c.1879+13C>T rs375573788 0.00008
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224 0.00008
NM_020975.6(RET):c.*1326T>C rs141016377 0.00007
NM_006953.4(UPK3A):c.560G>A (p.Arg187His) rs140649681 0.00006
NM_020975.6(RET):c.*1109T>C rs886047006 0.00006
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) rs75873440 0.00006
NM_020975.6(RET):c.1649-4G>A rs369769303 0.00006
NM_020975.6(RET):c.*824G>T rs886047002 0.00005
NM_006953.4(UPK3A):c.418G>A (p.Gly140Arg) rs139626522 0.00004
NM_020975.6(RET):c.*1659T>C rs886047012 0.00004
NM_020975.6(RET):c.*1900C>A rs956882000 0.00004
NM_020975.6(RET):c.1420C>T (p.Arg474Trp) rs775842917 0.00004
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala) rs756465544 0.00004
NM_020975.6(RET):c.603C>T (p.Ser201=) rs780120451 0.00004
NM_020975.6(RET):c.693C>T (p.Arg231=) rs576806329 0.00004
NM_020975.6(RET):c.718G>C (p.Val240Leu) rs375120544 0.00004
NM_006953.4(UPK3A):c.332G>A (p.Ser111Asn) rs765876533 0.00003
NM_020975.6(RET):c.*1212C>T rs551902553 0.00003
NM_020975.6(RET):c.1760-12G>A rs377767392 0.00003
NM_020975.6(RET):c.1879+14G>A rs532810255 0.00003
NM_020975.6(RET):c.2332G>A (p.Val778Ile) rs75686697 0.00003
NM_020975.6(RET):c.972G>C (p.Trp324Cys) rs758298916 0.00003
NM_006953.4(UPK3A):c.802T>C (p.Ser268Pro) rs886057606 0.00002
NM_020975.6(RET):c.*1489G>A rs535080963 0.00002
NM_020975.6(RET):c.1920C>T (p.Ala640=) rs149768519 0.00002
NM_020975.6(RET):c.220G>A (p.Gly74Ser) rs764938319 0.00002
NM_006953.4(UPK3A):c.*42C>T rs746035232 0.00001
NM_006953.4(UPK3A):c.359G>A (p.Gly120Glu) rs1469984134 0.00001
NM_006953.4(UPK3A):c.361G>T (p.Asp121Tyr) rs779158798 0.00001
NM_020975.6(RET):c.*1112A>G rs1353594500 0.00001
NM_020975.6(RET):c.*1533A>G rs1838409564 0.00001
NM_020975.6(RET):c.*175C>G rs886046990 0.00001
NM_020975.6(RET):c.-158G>A rs886046984 0.00001
NM_020975.6(RET):c.1162G>A (p.Val388Ile) rs776223166 0.00001
NM_020975.6(RET):c.1165C>T (p.Leu389Phe) rs895556824 0.00001
NM_020975.6(RET):c.1264-8C>T rs769595884 0.00001
NM_020975.6(RET):c.1462A>T (p.Thr488Ser) rs753733901 0.00001
NM_020975.6(RET):c.1601T>C (p.Leu534Pro) rs1206429429 0.00001
NM_020975.6(RET):c.1618A>G (p.Arg540Gly) rs543376293 0.00001
NM_020975.6(RET):c.1798C>T (p.Arg600Trp) rs745418960 0.00001
NM_020975.6(RET):c.1890C>T (p.Cys630=) rs781145070 0.00001
NM_020975.6(RET):c.2050C>T (p.Pro684Ser) rs141347316 0.00001
NM_020975.6(RET):c.2070C>T (p.Ser690=) rs201550433 0.00001
NM_020975.6(RET):c.2129A>G (p.Lys710Arg) rs774983492 0.00001
NM_020975.6(RET):c.235C>T (p.Arg79Trp) rs537523906 0.00001
NM_020975.6(RET):c.2538C>T (p.Leu846=) rs201816539 0.00001
NM_020975.6(RET):c.2876G>A (p.Arg959Gln) rs745650861 0.00001
NM_020975.6(RET):c.2939+7G>A rs374565577 0.00001
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928 0.00001
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe) rs766330880 0.00001
NM_020975.6(RET):c.334C>T (p.Arg112Cys) rs762626209 0.00001
NM_020975.6(RET):c.432C>T (p.Arg144=) rs756999107 0.00001
NM_020975.6(RET):c.628G>A (p.Glu210Lys) rs1060500762 0.00001
NM_006953.4(UPK3A):c.470C>T (p.Ser157Leu) rs200941092
NM_006953.4(UPK3A):c.704+8C>A rs112177270
NM_006953.4(UPK3A):c.732G>A (p.Thr244=) rs749421617
NM_020975.6(RET):c.*1020G>T rs886047004
NM_020975.6(RET):c.*1046G>C rs143948954
NM_020975.6(RET):c.*1103C>T rs886047005
NM_020975.6(RET):c.*1233T>C rs886047007
NM_020975.6(RET):c.*1278del rs886047008
NM_020975.6(RET):c.*1337A>T rs886047009
NM_020975.6(RET):c.*1345G>T rs886047010
NM_020975.6(RET):c.*159G>T rs1838381962
NM_020975.6(RET):c.*1646T>G rs886047011
NM_020975.6(RET):c.*1797T>C rs886047013
NM_020975.6(RET):c.*1797T>G rs886047013
NM_020975.6(RET):c.*180G>A rs1838382247
NM_020975.6(RET):c.*1886T>G rs1019095754
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 rs564665995
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.*883G>A rs1838396430
NM_020975.6(RET):c.*935C>A rs886047003
NM_020975.6(RET):c.-173A>G rs1359755826
NM_020975.6(RET):c.-187C>A rs886046983
NM_020975.6(RET):c.1062T>C (p.Tyr354=) rs1837785673
NM_020975.6(RET):c.1109T>A (p.Met370Lys) rs886046987
NM_020975.6(RET):c.1326G>T (p.Leu442=) rs746055866
NM_020975.6(RET):c.1880-5C>A rs1838016447
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.2580G>A (p.Gln860=) rs886046988
NM_020975.6(RET):c.2847A>G (p.Gly949=) rs886046989
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.867+4C>G rs1837741280

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