ClinVar Miner

List of variants studied for Hirschsprung disease, susceptibility to, 1 by GenomeConnect, ClinGen

Included ClinVar conditions (11):

Aganglionic megacolon
Aganglionic megacolon; Hyperphosphatasia with intellectual disability syndrome 2
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
Hirschsprung disease, susceptibility to, 1
Hirschsprung disease, susceptibility to, 1; Familial medullary thyroid carcinoma
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
Hirschsprung disease, susceptibility to, 1; Sensorineural hearing loss disorder
Multiple endocrine neoplasia, type 2; Aganglionic megacolon

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020975.6(RET):c.1737C>G (p.Asn579Lys)	rs144455821	0.00003
NM_020975.6(RET):c.1828A>C (p.Asn610His)	rs1837994023

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