ClinVar Miner

List of variants studied for basal ganglia calcification, idiopathic, 7, autosomal recessive by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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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.841T>C (p.Tyr281His) rs940013327 0.00001
NM_020702.5(MYORG):c.1873G>T (p.Glu625Ter) rs1237086797

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