ClinVar Miner

List of variants in gene MYO18B studied for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

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Total variants: 13
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HGVS dbSNP
NM_032608.7(MYO18B):c.2879C>T (p.Ala960Val)
NM_032608.7(MYO18B):c.3397C>T (p.Arg1133Trp)
NM_032608.7(MYO18B):c.4058G>A (p.Arg1353His) rs532777099
NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs) rs1569172839
NM_032608.7(MYO18B):c.6322C>T (p.Arg2108Ter)
NM_032608.7(MYO18B):c.6433C>T (p.Arg2145Ter)
NM_032608.7(MYO18B):c.6496G>T (p.Glu2166Ter) rs869312740
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs) rs756408696
NM_032608.7(MYO18B):c.6768del (p.Leu2257fs) rs1569308524
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter) rs556752387
NM_032608.7(MYO18B):c.7345C>T (p.Arg2449Trp) rs149103381
NM_032608.7(MYO18B):c.969_971AAG[1] (p.Arg325del)
NM_032608.7(MYO18B):c.988G>A (p.Gly330Ser) rs764491130

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