List of variants reported as likely pathogenic for Basal ganglia calcification, idiopathic, 7, autosomal recessive by SIB Swiss Institute of Bioinformatics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_020702.5(MYORG):c.103A>G (p.Met35Val)	rs765483979	0.00002
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly)	rs749427106
NM_020702.5(MYORG):c.1328G>A (p.Trp443Ter)	rs868530644
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter)	rs1563981743
NM_020702.5(MYORG):c.1431C>A (p.Tyr477Ter)	rs1588003652
NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup)	rs775762093
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter)	rs1563982489

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