ClinVar Miner

List of variants reported as pathogenic for adrenal gland disease by Section on Medical Neuroendocrinolgy,National Institutes of Health

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP
NM_003000.2(SDHB):c.136C>T (p.Arg46Ter) rs74315370
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.183T>G (p.Tyr61Ter) rs760169139
NM_003000.2(SDHB):c.1A>T (p.Met1Leu) rs1131691049
NM_003000.2(SDHB):c.1_72del72 (p.Met1_Gln24del) rs1553179313
NM_003000.2(SDHB):c.268C>T (p.Arg90Ter) rs74315366
NM_003000.2(SDHB):c.26T>A (p.Leu9Ter) rs786203800
NM_003000.2(SDHB):c.271A>T (p.Arg91Ter) rs878854575
NM_003000.2(SDHB):c.274T>C (p.Ser92Pro) rs1553178041
NM_003000.2(SDHB):c.275C>A (p.Ser92Ter) rs1553178040
NM_003000.2(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.2(SDHB):c.286+1G>A rs786201063
NM_003000.2(SDHB):c.287-1G>C rs397516833
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.2(SDHB):c.331_332delCT (p.Leu111Serfs) rs1060503751
NM_003000.2(SDHB):c.343C>T (p.Arg115Ter) rs751000085
NM_003000.2(SDHB):c.369_370insA (p.Val124Serfs) rs1553177742
NM_003000.2(SDHB):c.392del (p.Pro131Hisfs) rs1553177739
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003000.2(SDHB):c.423+1G>A rs398122805
NM_003000.2(SDHB):c.445_447delCAGinsGGTATCT (p.Gln149Glyfs) rs1553177687
NM_003000.2(SDHB):c.490C>T (p.Gln164Ter) rs1553177679
NM_003000.2(SDHB):c.523_527delGAAGAinsAAGG (p.Glu175Lysfs) rs1553177672
NM_003000.2(SDHB):c.526G>T (p.Glu176Ter) rs794728946
NM_003000.2(SDHB):c.541-2A>G rs786201161
NM_003000.2(SDHB):c.553G>T (p.Glu185Ter) rs1045881797
NM_003000.2(SDHB):c.587G>A (p.Cys196Tyr) rs876658367
NM_003000.2(SDHB):c.600G>T (p.Trp200Cys) rs397516836
NM_003000.2(SDHB):c.642+1G>A rs1131691052
NM_003000.2(SDHB):c.683_684del (p.Glu228Glyfs) rs762812025
NM_003000.2(SDHB):c.688C>T (p.Arg230Cys) rs138996609
NM_003000.2(SDHB):c.689G>A (p.Arg230His) rs587782604
NM_003000.2(SDHB):c.72+1G>T rs587782703
NM_003000.2(SDHB):c.725G>A (p.Arg242His) rs74315368
NM_003000.2(SDHB):c.73-9A>G rs1553178757
NM_003000.2(SDHB):c.736A>T (p.Ile246Phe) rs146800605
NM_003000.2(SDHB):c.761_762insC (p.Lys255Terfs) rs34309090
NM_003000.2(SDHB):c.79C>T (p.Arg27Ter) rs74315369
NM_003000.2(SDHB):c.80G>A (p.Arg27Gln) rs373976827
NM_003000.2(SDHB):c.88delC (p.Gln30Argfs) rs747198089
NM_003000.2:c.1_843del
NM_003000.2:c.287_540del
NM_003000.2:c.73_846del
NM_003001.3(SDHC):c.377A>G (p.Tyr126Cys) rs898854295
NM_003001.3(SDHC):c.397C>T (p.Arg133Ter) rs764575966
NM_003001.3(SDHC):c.406_510del105 (p.Met136_Ter170delinsArgLys) rs1553266474
NM_003001.3(SDHC):c.43C>T (p.Arg15Ter) rs201286421
NM_003002.3(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.3(SDHD):c.170-1G>T rs1306475361
NM_003002.3(SDHD):c.209G>A (p.Arg70Lys) rs755047928
NM_003002.3(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.3(SDHD):c.314+1G>A rs1555187083
NM_003002.3(SDHD):c.315_480del166 (p.Trp105Cysfs) rs1555187570
NM_003002.3(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.3(SDHD):c.342T>A (p.Tyr114Ter) rs1050032491
NM_003002.3(SDHD):c.381delG (p.Leu128Phefs) rs1555187601
NM_003002.3(SDHD):c.57delG (p.Leu20Cysfs) rs587776649
NM_003002.3(SDHD):c.95C>A (p.Ser32Ter) rs104894305
NM_003002.3:c.1_169del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.