List of variants in gene PDGFRB studied for Basal ganglia calcification, idiopathic, 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_002609.4(PDGFRB):c.364+44C>T	rs740750	0.47472
NM_002609.4(PDGFRB):c.3137+4A>G	rs246391	0.38064
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=)	rs246388	0.36918
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=)	rs246395	0.26470
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=)	rs2228440	0.09078
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)	rs2229558	0.00834
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys)	rs367543286	0.00001
NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp)	rs397509382	0.00001
NM_002609.4(PDGFRB):c.1686C>G (p.Tyr562Ter)	rs570202484
NM_002609.4(PDGFRB):c.1973T>C (p.Leu658Pro)	rs397509381
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys)	rs138008832
NM_002609.4(PDGFRB):c.2402T>C (p.Met801Thr)	rs1760125256
NM_002609.4(PDGFRB):c.3080A>C (p.Asp1027Ala)
NM_002609.4(PDGFRB):c.3241G>A (p.Glu1081Lys)	rs1554107047

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