ClinVar Miner

List of variants reported as pathogenic 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: 54
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HGVS dbSNP
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000244.3(MEN1):c.1267G>A (p.Asp423Asn) rs104894264
NM_000244.3(MEN1):c.211_212del (p.Pro71fs) rs386134251
NM_000244.3(MEN1):c.518T>C (p.Leu173Pro) rs386134256
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.967_979del (p.Leu323fs) rs386833675
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.818G>A (p.Arg273His) rs28934576
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.245G>C (p.Arg82Pro) rs794726890
NM_000551.3(VHL):c.250G>C (p.Val84Leu) rs5030827
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.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.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.388G>C (p.Val130Leu) rs104893830
NM_000551.3(VHL):c.388G>T (p.Val130Phe) rs104893830
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.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.525C>G (p.Tyr175Ter) rs5030835
NM_000551.3(VHL):c.586A>T (p.Lys196Ter) rs281860296
NM_003000.2(SDHB):c.268C>T (p.Arg90Ter) rs74315366
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173

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