ClinVar Miner

List of variants studied for arthrogryposis multiplex congenita 1, neurogenic, with myelin defect by Institute of Human Genetics, Cologne University

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_139284.3(LGI4):c.1153C>T (p.Gln385Ter) rs1366269616 0.00001
NM_139284.3(LGI4):c.200T>G (p.Leu67Arg) rs1555734932

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