ClinVar Miner

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

Included ClinVar conditions (128):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter) rs74315370 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) rs74315369 0.00003
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295 0.00003
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) rs751000085 0.00001
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys) rs397516836 0.00001
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys) rs138996609 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003000.3(SDHB):c.80G>A (p.Arg27Gln) rs373976827 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NC_000001.11:g.17027762_17027766delinsCCTT rs1553177672
NC_000001.11:g.17027842_17027844delinsAGATACC rs1553177687
NM_003000.2(SDHB):c.287_540del
NM_003000.2:c.73_846del
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter) rs760169139
NM_003000.3(SDHB):c.1A>T (p.Met1Leu) rs1131691049
NM_003000.3(SDHB):c.1_72del rs1553179313
NM_003000.3(SDHB):c.1_843del
NM_003000.3(SDHB):c.26T>A (p.Leu9Ter) rs786203800
NM_003000.3(SDHB):c.271A>T (p.Arg91Ter) rs878854575
NM_003000.3(SDHB):c.274T>C (p.Ser92Pro) rs1553178041
NM_003000.3(SDHB):c.275C>A (p.Ser92Ter) rs1553178040
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.3(SDHB):c.286+1G>A rs786201063
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.331_332del (p.Leu111fs) rs1060503751
NM_003000.3(SDHB):c.369_370insA (p.Val124fs) rs1553177742
NM_003000.3(SDHB):c.392del (p.Pro131fs) rs1553177739
NM_003000.3(SDHB):c.423+1G>A rs398122805
NM_003000.3(SDHB):c.490C>T (p.Gln164Ter) rs1553177679
NM_003000.3(SDHB):c.526G>T (p.Glu176Ter) rs794728946
NM_003000.3(SDHB):c.541-2A>G rs786201161
NM_003000.3(SDHB):c.553G>T (p.Glu185Ter) rs1045881797
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr) rs876658367
NM_003000.3(SDHB):c.642+1G>A rs1131691052
NM_003000.3(SDHB):c.683_684del (p.Glu228fs) rs762812025
NM_003000.3(SDHB):c.72+1G>T rs587782703
NM_003000.3(SDHB):c.73-9A>G rs1553178757
NM_003000.3(SDHB):c.736A>T (p.Ile246Phe) rs146800605
NM_003000.3(SDHB):c.761dup (p.Pro254_Lys255insTer) rs34309090
NM_003000.3(SDHB):c.88del (p.Gln30fs) rs747198089
NM_003001.5(SDHC):c.407_*1del (p.Met136_Ter170delinsXaa) rs1553266474
NM_003002.3:c.1_169del
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.170-1G>T rs1306475361
NM_003002.4(SDHD):c.209G>A (p.Arg70Lys) rs755047928
NM_003002.4(SDHD):c.314+1G>A rs1555187083
NM_003002.4(SDHD):c.315_480del (p.Trp105fs) rs1555187570
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter) rs1050032491
NM_003002.4(SDHD):c.381del (p.Leu128fs) rs1555187601
NM_003002.4(SDHD):c.57del (p.Leu20fs) rs587776649
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) rs104894305

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