ClinVar Miner

List of variants in gene LOC130067680, UPK3A studied for renal hypodysplasia/aplasia 1

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006953.4(UPK3A):c.-25G>C	rs116162068	0.06869
NM_006953.4(UPK3A):c.-26C>G	rs768663033	0.00019

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