ClinVar Miner

List of variants studied for adrenal gland disease by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 145
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HGVS dbSNP
NM_000033.4(ABCD1):c.*208G>C rs193922092
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.4(ABCD1):c.1780+4G>A rs193922095
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000196.4(HSD11B2):c.588G>A (p.Ala196=) rs5480
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327
NM_000244.3(MEN1):c.1028dup (p.Gln344fs) rs386134245
NM_000244.3(MEN1):c.1064+9C>T rs200517349
NM_000244.3(MEN1):c.1078del (p.Arg360fs) rs386134246
NM_000244.3(MEN1):c.1189dup (p.Glu397fs) rs386134247
NM_000244.3(MEN1):c.1267G>A (p.Asp423Asn) rs104894264
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000244.3(MEN1):c.1311G>A (p.Leu437=) rs138770431
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.211_212del (p.Pro71fs) rs386134251
NM_000244.3(MEN1):c.249G>A (p.Leu83=) rs386134252
NM_000244.3(MEN1):c.252dup (p.Ile85fs) rs386134253
NM_000244.3(MEN1):c.417C>G (p.His139Gln) rs386134254
NM_000244.3(MEN1):c.480_481insAATT (p.Gly161fs) rs386134255
NM_000244.3(MEN1):c.507C>T (p.Ala169=) rs146759807
NM_000244.3(MEN1):c.518T>C (p.Leu173Pro) rs386134256
NM_000244.3(MEN1):c.664_669+2del rs386134258
NM_000244.3(MEN1):c.669+18C>T rs180737290
NM_000244.3(MEN1):c.773C>A (p.Ser258Ter) rs386134259
NM_000244.3(MEN1):c.951C>G (p.Tyr317Ter) rs386134260
NM_000244.3(MEN1):c.970dup (p.Tyr324fs) rs386134261
NM_000349.3(STAR):c.135del (p.Ser46fs) rs193922393
NM_000383.4(AIRE):c.1203T>C (p.Pro401=) rs61737072
NM_000383.4(AIRE):c.1279-18C>T rs72650678
NM_000383.4(AIRE):c.1296G>A (p.Ala432=) rs144359012
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1490del (p.Pro497fs) rs750764323
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) rs193922417
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418
NM_000383.4(AIRE):c.538+42del rs3214074
NM_000383.4(AIRE):c.652+14C>T rs41277546
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro) rs386134262
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766
NM_000497.3(CYP11B1):c.1015G>A (p.Ala339Thr) rs193922534
NM_000497.3(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile) rs193922535
NM_000497.3(CYP11B1):c.1016C>T (p.Ala339Val) rs193922536
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1120C>T (p.Arg374Trp) rs61752786
NM_000497.3(CYP11B1):c.1122-12C>T rs193922537
NM_000497.3(CYP11B1):c.1122-20A>G rs61752794
NM_000497.3(CYP11B1):c.1144C>T (p.Leu382=) rs5293
NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069
NM_000497.3(CYP11B1):c.125C>T (p.Pro42Leu) rs193922538
NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) rs9657022
NM_000497.3(CYP11B1):c.264G>A (p.Met88Ile) rs193922539
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.3(CYP11B1):c.413G>A (p.Arg138His) rs193922540
NM_000497.3(CYP11B1):c.799+2T>C rs193922541
NM_000497.3(CYP11B1):c.799+5G>C rs193922542
NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=) rs193922543
NM_000500.9(CYP21A2):c.293-7C>G rs193922544
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=) rs193922545
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=) rs193922546
NM_000500.9(CYP21A2):c.738+12_738+13inv rs71552100
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472
NM_000546.5(TP53):c.375G>A (p.Thr125=) rs55863639
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.782+1G>T rs1555525429
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000551.3(VHL):c.189dup (p.Arg64fs) rs1553619402
NM_000551.3(VHL):c.192del (p.Ser65fs) rs730882031
NM_000551.3(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.3(VHL):c.238A>C (p.Ser80Arg) rs786202787
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.242C>T (p.Pro81Leu) rs193922608
NM_000551.3(VHL):c.245G>C (p.Arg82Pro) rs794726890
NM_000551.3(VHL):c.250G>C (p.Val84Leu) rs5030827
NM_000551.3(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.3(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.3(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.3(VHL):c.257C>T (p.Pro86Leu) rs730882034
NM_000551.3(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.3(VHL):c.262T>C (p.Trp88Arg) rs1553619431
NM_000551.3(VHL):c.278G>A (p.Gly93Asp) rs1553619440
NM_000551.3(VHL):c.292T>C (p.Tyr98His) rs5030809
NM_000551.3(VHL):c.313A>C (p.Thr105Pro) rs1553619461
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.331A>G (p.Ser111Gly) rs1559426203
NM_000551.3(VHL):c.332G>A (p.Ser111Asn) rs869025631
NM_000551.3(VHL):c.334T>A (p.Tyr112Asn) rs104893824
NM_000551.3(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.3(VHL):c.336C>G (p.Tyr112Ter) rs751232153
NM_000551.3(VHL):c.340+1G>C rs730882032
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.341-2A>G rs869025637
NM_000551.3(VHL):c.345C>A (p.His115Gln) rs864622646
NM_000551.3(VHL):c.351G>T (p.Trp117Cys) rs727504215
NM_000551.3(VHL):c.355T>C (p.Phe119Leu) rs1553619948
NM_000551.3(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.3(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000551.3(VHL):c.388G>C (p.Val130Leu) rs104893830
NM_000551.3(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.3(VHL):c.392A>G (p.Asn131Ser) rs1553619963
NM_000551.3(VHL):c.395A>C (p.Gln132Pro) rs1347416980
NM_000551.3(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.3(VHL):c.445G>T (p.Ala149Ser) rs587780077
NM_000551.3(VHL):c.452T>C (p.Ile151Thr) rs869025655
NM_000551.3(VHL):c.458T>A (p.Leu153Gln) rs193922611
NM_000551.3(VHL):c.464-117del rs193922612
NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.3(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.3(VHL):c.474_476delinsC (p.Lys159fs) rs1553620305
NM_000551.3(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.3(VHL):c.484T>C (p.Cys162Arg) rs1553620313
NM_000551.3(VHL):c.485G>T (p.Cys162Phe) rs397516444
NM_000551.3(VHL):c.491A>G (p.Gln164Arg) rs267607170
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.3(VHL):c.525C>G (p.Tyr175Ter) rs5030835
NM_000551.3(VHL):c.549G>A (p.Ser183=) rs193922614
NM_000551.3(VHL):c.586A>T (p.Lys196Ter) rs281860296
NM_000551.3(VHL):c.642A>G (p.Ter214Trp) rs1559430011
NM_003000.2(SDHB):c.268C>T (p.Arg90Ter) rs74315366
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003000.2(SDHB):c.424-37TTC[10] rs34261028
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1259+1G>A rs121908707
NM_007194.4(CHEK2):c.1434del (p.Glu479fs) rs786202601
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_020630.5(RET):c.-234_-230dup rs386134265
NM_020975.6(RET):c.1264-55dup rs193922698
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
p.X214Trp

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