ClinVar Miner

List of variants studied for Idiopathic basal ganglia calcification 1 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001257180.2(SLC20A2):c.568A>G (p.Thr190Ala) rs1272921798 0.00001
NM_001257180.2(SLC20A2):c.99del (p.Phe33fs) rs1807706006

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