ClinVar Miner

List of variants studied for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 3
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NM_032608.7(MYO18B):c.4058G>A (p.Arg1353His) rs532777099
NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs) rs1569172839
NM_032608.7(MYO18B):c.7345C>T (p.Arg2449Trp) rs149103381

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