ClinVar Miner

List of variants studied for basal ganglia calcification, idiopathic, 1 by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (2):

Idiopathic basal ganglia calcification 1
Myofibromatosis, infantile, 1; Myeloproliferative disorder, chronic, with eosinophilia; Acroosteolysis-keloid-like lesions-premature aging syndrome; Idiopathic basal ganglia calcification 1; Basal ganglia calcification, idiopathic, 4; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter)	rs751093906
NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter)	rs1563452941
NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter)	rs387906653
NM_001257180.2(SLC20A2):c.935-2A>G	rs1586025869

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