ClinVar Miner

List of variants studied for Renal hypodysplasia/aplasia 1 by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 194
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HGVS dbSNP
NM_006953.4(UPK3A):c.*107T>C rs558490093
NM_006953.4(UPK3A):c.*26C>T rs570266965
NM_006953.4(UPK3A):c.*42C>T rs746035232
NM_006953.4(UPK3A):c.*73C>T
NM_006953.4(UPK3A):c.-25G>C rs116162068
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.259T>G (p.Ser87Ala) rs145106685
NM_006953.4(UPK3A):c.260C>A (p.Ser87Ter) rs138918236
NM_006953.4(UPK3A):c.272A>T (p.Gln91Leu)
NM_006953.4(UPK3A):c.332G>A (p.Ser111Asn) rs765876533
NM_006953.4(UPK3A):c.356T>C (p.Ile119Thr) rs150598171
NM_006953.4(UPK3A):c.359G>A (p.Gly120Glu)
NM_006953.4(UPK3A):c.361G>T (p.Asp121Tyr)
NM_006953.4(UPK3A):c.402C>T (p.Val134=) rs2673088
NM_006953.4(UPK3A):c.404G>A (p.Arg135Lys) rs147406393
NM_006953.4(UPK3A):c.417C>T (p.Asn139=)
NM_006953.4(UPK3A):c.418G>A (p.Gly140Arg) rs139626522
NM_006953.4(UPK3A):c.450C>A (p.Gly150=)
NM_006953.4(UPK3A):c.460G>C (p.Ala154Pro) rs1057353
NM_006953.4(UPK3A):c.465C>T (p.Pro155=) rs62001037
NM_006953.4(UPK3A):c.470C>T (p.Ser157Leu) rs200941092
NM_006953.4(UPK3A):c.480G>A (p.Thr160=)
NM_006953.4(UPK3A):c.545G>A (p.Trp182Ter) rs147609981
NM_006953.4(UPK3A):c.549A>G (p.Ser183=) rs1135360
NM_006953.4(UPK3A):c.560G>A (p.Arg187His) rs140649681
NM_006953.4(UPK3A):c.571+1G>A rs145723454
NM_006953.4(UPK3A):c.588G>A (p.Thr196=) rs115882180
NM_006953.4(UPK3A):c.628G>A (p.Val210Ile) rs147247708
NM_006953.4(UPK3A):c.704+8C>A rs112177270
NM_006953.4(UPK3A):c.704+8C>G
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_006953.4(UPK3A):c.858A>G (p.Gln286=) rs1057356
NM_006953.4(UPK3A):c.90C>T (p.Phe30=) rs199656309
NM_020630.5(RET):c.-196C>A rs10900297
NM_020630.5(RET):c.-200A>G rs10900296
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.*1116T>C rs2435355
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.*1506G>A rs2742241
NM_020975.6(RET):c.*1516C>T
NM_020975.6(RET):c.*1533A>G
NM_020975.6(RET):c.*1558A>C rs142572876
NM_020975.6(RET):c.*1583G>A rs192065891
NM_020975.6(RET):c.*1591G>A rs76759170
NM_020975.6(RET):c.*1599G>A rs145954635
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.*1742G>A rs143369221
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.*1870C>T rs146771196
NM_020975.6(RET):c.*1886T>G
NM_020975.6(RET):c.*1900C>A
NM_020975.6(RET):c.*1969T>C rs3026785
NM_020975.6(RET):c.*29C>A
NM_020975.6(RET):c.*330A>G rs141460872
NM_020975.6(RET):c.*358G>T rs886046991
NM_020975.6(RET):c.*368G>T rs756051983
NM_020975.6(RET):c.*388G>A rs3026782
NM_020975.6(RET):c.*446A>G rs886046992
NM_020975.6(RET):c.*453G>T rs886046993
NM_020975.6(RET):c.*492G>C
NM_020975.6(RET):c.*499dup rs201945709
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.*576G>A rs185408658
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.*95C>T rs17028
NM_020975.6(RET):c.-132G>T rs886046985
NM_020975.6(RET):c.-158G>A rs886046984
NM_020975.6(RET):c.-160G>T
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.1063+9G>A rs765463636
NM_020975.6(RET):c.1109T>A (p.Met370Lys) rs886046987
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208
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.1264-5C>T rs9282835
NM_020975.6(RET):c.1264-8C>T rs769595884
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860
NM_020975.6(RET):c.1326G>T (p.Leu442=)
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919
NM_020975.6(RET):c.1353G>T (p.Thr451=) rs201568301
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.1523-7C>T rs567967877
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.166C>A (p.Leu56Met) rs145633958
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.1946C>T (p.Ser649Leu) rs148935214
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011
NM_020975.6(RET):c.2037C>T (p.Pro679=) rs55862116
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.2071G>A (p.Gly691Ser) rs1799939
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150
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.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2393-14C>T rs144269978
NM_020975.6(RET):c.2403C>T (p.Leu801=) rs1554819519
NM_020975.6(RET):c.2418C>T (p.Tyr806=) rs553418132
NM_020975.6(RET):c.2467G>A (p.Gly823Arg) rs138847998
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862
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.2712C>G (p.Ser904=) rs1800863
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.2944C>T (p.Arg982Cys) rs17158558
NM_020975.6(RET):c.2976G>A (p.Pro992=) rs528823385
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.3112A>G (p.Thr1038Ala) rs201740483
NM_020975.6(RET):c.3188-9C>T rs551159582
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.337+12G>A rs200468424
NM_020975.6(RET):c.337+9G>A rs2435351
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859
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.654G>A (p.Pro218=) rs137928436
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.833C>A (p.Thr278Asn) rs35118262
NM_020975.6(RET):c.867+4C>G
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185
NM_020975.6(RET):c.957C>A (p.Leu319=) rs149926238
NM_020975.6(RET):c.972G>C (p.Trp324Cys) rs758298916

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