ClinVar Miner

List of variants studied for electroclinical syndrome by Laboratory of Medical Genetics, University of Torino

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004171.4(SLC1A2):c.689T>C (p.Ile230Thr)
NM_004408.4(DNM1):c.2045C>G (p.Pro682Arg)
NM_006279.5(ST3GAL3):c.891+1del rs1387140766

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