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

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_020702.5(MYORG):c.1300G>C (p.Asp434His)	rs916933188	0.00003
NM_020702.5(MYORG):c.1967T>C (p.Ile656Thr)	rs370944350	0.00003
NM_020702.5(MYORG):c.1865T>C (p.Leu622Pro)	rs1239594469	0.00001
NM_020702.5(MYORG):c.747G>C (p.Trp249Cys)	rs1356560096	0.00001
NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del)	rs1180204613
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1])	rs1398218251
NM_020702.5(MYORG):c.1118C>A (p.Ala373Asp)	rs1588004082
NM_020702.5(MYORG):c.1427C>A (p.Thr476Asn)	rs769099047
NM_020702.5(MYORG):c.1831C>T (p.Arg611Trp)	rs536187898
NM_020702.5(MYORG):c.191G>A (p.Gly64Glu)	rs756514041
NM_020702.5(MYORG):c.1979T>A (p.Leu660Gln)	rs1588002920
NM_020702.5(MYORG):c.338T>G (p.Leu113Arg)	rs753277260
NM_020702.5(MYORG):c.428_442del (p.Leu143_Ile147del)	rs1588005063
NM_020702.5(MYORG):c.687G>C (p.Trp229Cys)	rs1588004637
NM_020702.5(MYORG):c.695C>T (p.Ser232Leu)	rs757434146
NM_020702.5(MYORG):c.782_783delinsTT (p.Arg261Leu)	rs1563982307

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