ClinVar Miner

List of variants studied for basal ganglia calcification, idiopathic, 5 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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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