List of variants reported as pathogenic for basal ganglia calcification, idiopathic, 8, autosomal recessive

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_021219.4(JAM2):c.323G>A (p.Arg108His)	rs1383641309	0.00003
NM_021219.4(JAM2):c.685C>T (p.Arg229Ter)	rs781261918	0.00002
NM_021219.4(JAM2):c.395-1dup	rs751103286	0.00001
NM_021219.4(JAM2):c.143del (p.Ile47_Leu48insTer)	rs1601038626
NM_021219.4(JAM2):c.177_180del (p.Ser59_Arg60insTer)	rs1601038704
NM_021219.4(JAM2):c.1A>G (p.Met1Val)	rs1600978441
NM_021219.4(JAM2):c.504G>C (p.Trp168Cys)	rs1230941179
NM_021219.4:(67+1_68-1)_(394+1_395-1)del

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