ClinVar Miner

List of variants studied for adrenal gland disease by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 207
Download table as spreadsheet
HGVS dbSNP
NM_000546.5(TP53):c.639A>G (p.Arg213=) rs1800372
NM_000546.5(TP53):c.673-36G>C rs17880604
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000551.3(VHL):c.163dup (p.Glu55fs) rs869025615
NM_000551.3(VHL):c.164_171dup (p.Arg60fs) rs886041345
NM_000551.3(VHL):c.188T>A (p.Leu63Gln) rs104893827
NM_000551.3(VHL):c.189_192del (p.Arg64_Ser65insTer) rs869025647
NM_000551.3(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.3(VHL):c.193T>G (p.Ser65Ala) rs869025616
NM_000551.3(VHL):c.194C>A (p.Ser65Ter) rs5030826
NM_000551.3(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.3(VHL):c.201C>A (p.Asn67Lys) rs769658318
NM_000551.3(VHL):c.203C>A (p.Ser68Ter) rs869025617
NM_000551.3(VHL):c.203C>T (p.Ser68Leu) rs869025617
NM_000551.3(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.3(VHL):c.208G>T (p.Glu70Ter) rs5030802
NM_000551.3(VHL):c.214T>C (p.Ser72Pro) rs869025618
NM_000551.3(VHL):c.217C>T (p.Gln73Ter) rs869025619
NM_000551.3(VHL):c.221T>A (p.Val74Asp) rs5030803
NM_000551.3(VHL):c.221del (p.Val74fs) rs869025620
NM_000551.3(VHL):c.224T>G (p.Ile75Ser) rs1064794271
NM_000551.3(VHL):c.224_226TCT[1] (p.Phe76del) rs5030648
NM_000551.3(VHL):c.227T>A (p.Phe76Tyr) rs730882033
NM_000551.3(VHL):c.227T>C (p.Phe76Ser) rs730882033
NM_000551.3(VHL):c.232A>C (p.Asn78His) rs869025621
NM_000551.3(VHL):c.232A>G (p.Asn78Asp) rs869025621
NM_000551.3(VHL):c.232A>T (p.Asn78Tyr) rs869025621
NM_000551.3(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.3(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.3(VHL):c.233A>T (p.Asn78Ile) rs5030804
NM_000551.3(VHL):c.233del (p.Asn78fs) rs1559425925
NM_000551.3(VHL):c.239G>T (p.Ser80Ile) rs5030805
NM_000551.3(VHL):c.239_261del (p.Ser80fs) rs1559425951
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>A (p.Val84Met) rs5030827
NM_000551.3(VHL):c.250G>C (p.Val84Leu) rs5030827
NM_000551.3(VHL):c.250G>T (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.258del (p.Val87fs) rs864622545
NM_000551.3(VHL):c.258dup (p.Val87fs) rs864622545
NM_000551.3(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.3(VHL):c.263G>A (p.Trp88Ter) rs119103277
NM_000551.3(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.3(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.3(VHL):c.269A>T (p.Asn90Ile) rs143985153
NM_000551.3(VHL):c.269del (p.Asn90fs) rs869025623
NM_000551.3(VHL):c.271T>G (p.Phe91Val) rs1559426039
NM_000551.3(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.3(VHL):c.277G>C (p.Gly93Arg) rs5030808
NM_000551.3(VHL):c.277G>T (p.Gly93Cys) rs5030808
NM_000551.3(VHL):c.278G>A (p.Gly93Asp) rs1553619440
NM_000551.3(VHL):c.278G>T (p.Gly93Val) rs1553619440
NM_000551.3(VHL):c.278del (p.Gly93fs) rs1131690964
NM_000551.3(VHL):c.280G>T (p.Glu94Ter)
NM_000551.3(VHL):c.287A>C (p.Gln96Pro) rs1559426089
NM_000551.3(VHL):c.292T>C (p.Tyr98His) rs5030809
NM_000551.3(VHL):c.292_295del (p.Tyr98fs) rs1559426095
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.293A>G (p.Tyr98Cys) rs864321643
NM_000551.3(VHL):c.293dup (p.Tyr98Ter) rs869025624
NM_000551.3(VHL):c.294C>G (p.Tyr98Ter) rs1559426115
NM_000551.3(VHL):c.296dup (p.Thr100fs) rs869025625
NM_000551.3(VHL):c.300dup (p.Leu101fs) rs869025626
NM_000551.3(VHL):c.304_305dup (p.Pro103fs) rs1559426145
NM_000551.3(VHL):c.309del (p.Gly104fs) rs869025627
NM_000551.3(VHL):c.309dup (p.Gly104fs) rs869025628
NM_000551.3(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.3(VHL):c.311_340+20del rs869025629
NM_000551.3(VHL):c.320G>A (p.Arg107His) rs193922609
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.3(VHL):c.332G>A (p.Ser111Asn) rs869025631
NM_000551.3(VHL):c.332G>T (p.Ser111Ile) rs869025631
NM_000551.3(VHL):c.333C>G (p.Ser111Arg) rs765978945
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.335A>G (p.Tyr112Cys) rs869025633
NM_000551.3(VHL):c.335_340+5del11 rs869025632
NM_000551.3(VHL):c.337C>T (p.Arg113Ter) rs5030810
NM_000551.3(VHL):c.340+1G>A rs730882032
NM_000551.3(VHL):c.340+2_340+6del rs869025634
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.340+7G>C rs869025635
NM_000551.3(VHL):c.340+8C>T rs756068442
NM_000551.3(VHL):c.340G>C (p.Gly114Arg) rs869025636
NM_000551.3(VHL):c.341-21_341-17delAACCT rs869025639
NM_000551.3(VHL):c.341-25_370dup rs1553619923
NM_000551.3(VHL):c.341-2A>G rs869025637
NM_000551.3(VHL):c.341-3T>G rs1131690965
NM_000551.3(VHL):c.341delG rs869025638
NM_000551.3(VHL):c.346dup (p.Leu116fs) rs1559428051
NM_000551.3(VHL):c.350G>A (p.Trp117Ter) rs1559428056
NM_000551.3(VHL):c.351G>T (p.Trp117Cys) rs727504215
NM_000551.3(VHL):c.351del (p.Trp117fs) rs869025640
NM_000551.3(VHL):c.352_353insA (p.Leu118fs) rs869025641
NM_000551.3(VHL):c.357C>G (p.Phe119Leu) rs1559428077
NM_000551.3(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.3(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.3(VHL):c.370_371AC[2] (p.His125fs) rs869025644
NM_000551.3(VHL):c.374A>C (p.His125Pro) rs869025643
NM_000551.3(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.3(VHL):c.381_382delinsTT (p.Leu128Phe) rs869025645
NM_000551.3(VHL):c.381del (p.Leu128fs) rs1559428107
NM_000551.3(VHL):c.386T>C (p.Leu129Pro) rs1559428119
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.393_394dup (p.Gln132fs) rs1559428128
NM_000551.3(VHL):c.394C>T (p.Gln132Ter) rs5030813
NM_000551.3(VHL):c.397del (p.Thr133fs) rs1559428134
NM_000551.3(VHL):c.402del (p.Glu134fs) rs869025646
NM_000551.3(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.3(VHL):c.407T>G (p.Phe136Cys) rs5030833
NM_000551.3(VHL):c.413del (p.Pro138fs) rs1559428164
NM_000551.3(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.3(VHL):c.415_416TC[2] (p.Leu140fs) rs869025649
NM_000551.3(VHL):c.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn) rs1559428180
NM_000551.3(VHL):c.429C>G (p.Asp143Glu) rs773556807
NM_000551.3(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.3(VHL):c.431del (p.Gly144fs) rs869025651
NM_000551.3(VHL):c.433C>T (p.Gln145Ter) rs749704215
NM_000551.3(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.3(VHL):c.435_436del (p.Gln145fs) rs869025652
NM_000551.3(VHL):c.444del (p.Phe148fs) rs869025653
NM_000551.3(VHL):c.444dup (p.Ala149fs) rs869025653
NM_000551.3(VHL):c.445G>A (p.Ala149Thr) rs587780077
NM_000551.3(VHL):c.445G>C (p.Ala149Pro) rs587780077
NM_000551.3(VHL):c.445G>T (p.Ala149Ser) rs587780077
NM_000551.3(VHL):c.445dup (p.Ala149fs) rs1559428232
NM_000551.3(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.3(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.3(VHL):c.452T>G (p.Ile151Ser) rs869025655
NM_000551.3(VHL):c.454_463+17del rs869025656
NM_000551.3(VHL):c.462del (p.Val155fs) rs1559428267
NM_000551.3(VHL):c.463+1G>C rs869025657
NM_000551.3(VHL):c.463+37_463+39del rs869025658
NM_000551.3(VHL):c.463+8C>T rs5030834
NM_000551.3(VHL):c.463G>A (p.Val155Met) rs869025659
NM_000551.3(VHL):c.464-1G>A rs5030817
NM_000551.3(VHL):c.464-1G>C rs5030817
NM_000551.3(VHL):c.464-1G>T rs5030817
NM_000551.3(VHL):c.464-2A>G rs5030816
NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.3(VHL):c.470C>T (p.Thr157Ile) rs869025660
NM_000551.3(VHL):c.471dup (p.Leu158fs) rs869025661
NM_000551.3(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.3(VHL):c.477del (p.Glu160fs) rs730882020
NM_000551.3(VHL):c.477dup (p.Glu160fs) rs730882020
NM_000551.3(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.3(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.3(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
NM_000551.3(VHL):c.484T>C (p.Cys162Arg) rs1553620313
NM_000551.3(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_000551.3(VHL):c.485G>T (p.Cys162Phe) rs397516444
NM_000551.3(VHL):c.486C>A (p.Cys162Ter) rs5030622
NM_000551.3(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.3(VHL):c.490C>G (p.Gln164Glu) rs5030819
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.3(VHL):c.491A>G (p.Gln164Arg) rs267607170
NM_000551.3(VHL):c.496_506del (p.Val166fs) rs869025663
NM_000551.3(VHL):c.497T>A (p.Val166Asp) rs397516445
NM_000551.3(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.3(VHL):c.497T>G (p.Val166Gly) rs397516445
NM_000551.3(VHL):c.499C>G (p.Arg167Gly) rs5030820
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.3(VHL):c.500G>C (p.Arg167Pro) rs5030821
NM_000551.3(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000551.3(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000551.3(VHL):c.526del (p.Arg176fs) rs1559429711
NM_000551.3(VHL):c.529A>T (p.Arg177Ter) rs1559429717
NM_000551.3(VHL):c.533T>A (p.Leu178Gln) rs5030822
NM_000551.3(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.3(VHL):c.533T>G (p.Leu178Arg) rs5030822
NM_000551.3(VHL):c.533_534del (p.Leu178fs) rs1559429736
NM_000551.3(VHL):c.539T>G (p.Ile180Ser) rs1559429750
NM_000551.3(VHL):c.540_543del (p.Val181fs) rs869025664
NM_000551.3(VHL):c.546del (p.Arg182fs) rs869025665
NM_000551.3(VHL):c.547del (p.Ser183fs) rs1559429778
NM_000551.3(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_000551.3(VHL):c.554A>G (p.Tyr185Cys) rs561874453
NM_000551.3(VHL):c.555C>G (p.Tyr185Ter) rs864622109
NM_000551.3(VHL):c.558_560del (p.Glu186del) rs1559429813
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.3(VHL):c.563T>A (p.Leu188Gln) rs1559429824
NM_000551.3(VHL):c.563T>C (p.Leu188Pro) rs1559429824
NM_000551.3(VHL):c.565del (p.Glu189fs) rs1559429829
NM_000551.3(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.3(VHL):c.585_606dup (p.Gln203fs) rs1559429876
NM_000551.3(VHL):c.586A>T (p.Lys196Ter) rs281860296
NM_000551.3(VHL):c.587_590dup (p.Asp197fs) rs869025666
NM_000551.3(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000551.3(VHL):c.641G>T (p.Ter214Leu) rs869025668
NM_000551.3(VHL):c.642A>G (p.Ter214Trp) rs1559430011
NM_000551.3(VHL):c.642A>T (p.Ter214Cys) rs1559430011
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003001.3(SDHC):c.*84G>C rs201210474
NM_003002.4(SDHD):c.118A>C (p.Ile40Leu) rs146276662
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591

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