ClinVar Miner

List of variants studied for benign neoplasm of adrenal gland by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Included ClinVar conditions (23):

Adrenocortical adenoma
Aldosterone-producing adrenal cortex adenoma
Autism; Pheochromocytoma; Global developmental delay; Hypospadias; Tall stature; Paraganglioma
Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma
Carney-Stratakis syndrome; Pheochromocytoma; Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 1
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Mitochondrial complex 2 deficiency, nuclear type 3
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3
Charcot-Marie-Tooth disease type 2A1; Neuroblastoma; Pheochromocytoma
Charcot-Marie-Tooth disease type 2A1; Pheochromocytoma; Neuroblastoma, susceptibility to, 1
Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma
Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Renal hypodysplasia/aplasia 1; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
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; Paragangliomas 4; Pheochromocytoma
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Pheochromocytoma
Pheochromocytoma; Familial medullary thyroid carcinoma
Pheochromocytoma; Paraganglioma
Pheochromocytoma; Paragangliomas 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017849.4(TMEM127):c.621G>A (p.Ala207=)	rs3852673	0.13717
NM_017849.4(TMEM127):c.409+7C>T	rs189327749	0.00487
NM_017849.4(TMEM127):c.53C>T (p.Pro18Leu)	rs377740271	0.00036
NM_017849.4(TMEM127):c.565C>T (p.Leu189=)	rs146965678	0.00022
NM_017849.4(TMEM127):c.534C>T (p.Tyr178=)	rs550833832	0.00001
NM_002382.5(MAX):c.97C>T (p.Arg33Ter)	rs387906651
NM_017849.4(TMEM127):c.260C>T (p.Pro87Leu)
NM_017849.4(TMEM127):c.616C>T (p.Gln206Ter)	rs1684143889

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