List of variants reported as pathogenic for Basal ganglia calcification, idiopathic, 5

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002608.4(PDGFB):c.433C>T (p.Gln145Ter)	rs397515631	0.00001
NM_002608.4(PDGFB):c.356T>C (p.Leu119Pro)	rs397515632
NM_002608.4(PDGFB):c.3G>A (p.Met1Ile)	rs398122399
NM_002608.4(PDGFB):c.445C>T (p.Arg149Ter)	rs397515633
NM_002608.4(PDGFB):c.726G>C (p.Ter242Tyr)	rs398122398

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