ClinVar Miner

List of variants reported as uncertain significance for renal hypodysplasia/aplasia 1 by Baylor Genetics

Included ClinVar conditions (2):

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
Renal hypodysplasia/aplasia 1

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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_003638.3(ITGA8):c.840T>C (p.Ser280=)	rs151036773	0.00086
NM_003638.3(ITGA8):c.1156T>C (p.Phe386Leu)	rs147384918	0.00011
NM_003638.3(ITGA8):c.158A>G (p.Lys53Arg)	rs1013453104	0.00002

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