ClinVar Miner

List of variants studied for adrenal gland cancer by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Included ClinVar conditions (19):

Adenoid cystic carcinoma
Adrenal cortex carcinoma
Adrenocortical carcinoma, hereditary
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma
Adrenocortical carcinoma, hereditary; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Colorectal cancer; Bone marrow failure syndrome 5
Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma
Gastrointestinal carcinoma; Adrenal cortex carcinoma
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Cowden syndrome 1
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Mitochondrial complex 2 deficiency, nuclear type 4
Gastrointestinal stromal tumor; Mitochondrial complex II deficiency, nuclear type 1; Hereditary pheochromocytoma-paraganglioma; Paragangliomas 5
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma
Leigh syndrome; Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5; Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5
Paragangliomas 2
Paragangliomas 4
Paragangliomas 5

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Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)	rs74315369	0.00003
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)	rs138996609	0.00001
NM_004168.4(SDHA):c.688del (p.Glu230fs)	rs1553998199
NM_004168.4(SDHA):c.944dup (p.Gly316fs)	rs1579402180

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