ClinVar Miner

List of variants reported as likely pathogenic for basal ganglia disorder by Laboratory of Medical Genetics, University of Torino

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NC_000008.10:g.(42297172_42302163)_(42302281_42317413)del
NC_000008.10:g.(?_42275320)_(42297172_42302163)del
NM_001257180.2(SLC20A2):c.1196A>C (p.His399Pro) rs1563453866
NM_001257180.2(SLC20A2):c.1520_1521del (p.Val507fs) rs1563452322
NM_001257180.2(SLC20A2):c.1795-1G>A rs1563431044
NM_001257180.2(SLC20A2):c.187G>A (p.Gly63Ser) rs1563497719
NM_001257180.2(SLC20A2):c.188G>A (p.Gly63Asp) rs1563497714
NM_001257180.2(SLC20A2):c.21del (p.Leu7fs) rs1563498184
NM_001257180.2(SLC20A2):c.303del (p.Trp101fs) rs1563490467

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