ClinVar Miner

List of variants in gene MYORG reported as pathogenic for Basal ganglia calcification, idiopathic, 7, autosomal recessive

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_020702.5(MYORG):c.225G>A (p.Trp75Ter) rs760451348 0.00001
I655T
NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del) rs1180204613
NM_020702.5(MYORG):c.1233del (p.Phe411fs) rs1563981857
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly) rs749427106
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter) rs1563981743
NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup) rs775762093
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter) rs1563982489
NM_020702.5(MYORG):c.695C>T (p.Ser232Leu) rs757434146
NM_020702.5(MYORG):c.782_783delinsTT (p.Arg261Leu) rs1563982307

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