ClinVar Miner

List of variants reported as pathogenic for multiple endocrine neoplasia type 2A by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Included ClinVar conditions (10):

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
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B; Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)	rs75076352	0.00001
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)	rs76262710
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)	rs77503355

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