List of variants 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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