ClinVar Miner

List of variants reported as likely pathogenic for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome by Institute for Genomic Medicine, Nationwide Children's Hospital

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs) rs756408696
NM_032608.7(MYO18B):c.6768del (p.Leu2257fs) rs1569308524

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