ClinVar Miner

List of variants reported as likely pathogenic for Basal ganglia calcification, idiopathic, 7, autosomal recessive by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020702.5(MYORG):c.1788C>G (p.Tyr596Ter)	rs772374648	0.00001
NM_020702.5(MYORG):c.1873G>T (p.Glu625Ter)	rs1237086797

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