ClinVar Miner

List of variants studied for arthrogryposis multiplex congenita by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014875.3(KIF14):c.1514T>C (p.Leu505Pro) rs1660016633
NM_139284.3(LGI4):c.834del (p.Ser279fs) rs1600470099
NM_182895.5(SCARF2):c.25del (p.Ala9fs) rs1215759021

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