ClinVar Miner

List of variants reported as pathogenic for basal ganglia calcification, idiopathic, 1 by OMIM

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NG_032161.2:g.(87059_102191)_(118197_128986)del
NM_001257180.2(SLC20A2):c.1492G>A (p.Gly498Arg) rs1586022262
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met) rs387906654
NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp) rs387906652
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) rs387906652
NM_001257180.2(SLC20A2):c.1828_1831del (p.Ser610fs) rs398122396
NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer) rs398122395
NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs) rs398122397

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