ClinVar Miner

List of variants in gene MYO18B reported as likely pathogenic for congenital myopathy

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_032608.7(MYO18B):c.6322C>T (p.Arg2108Ter) rs773193391 0.00002
NM_032608.7(MYO18B):c.169C>T (p.Gln57Ter) rs1443918598 0.00001
NM_032608.7(MYO18B):c.7039C>T (p.Gln2347Ter) rs572116317 0.00001
NM_032608.7(MYO18B):c.2626C>T (p.Arg876Ter) rs267606197
NM_032608.7(MYO18B):c.3110G>A (p.Trp1037Ter)
NM_032608.7(MYO18B):c.3174_3175dup (p.Ala1059fs) rs2145951020
NM_032608.7(MYO18B):c.3492del (p.Phe1164fs) rs1601331202
NM_032608.7(MYO18B):c.4796del (p.Asn1599fs) rs1191610314
NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs) rs1569172839
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs) rs756408696
NM_032608.7(MYO18B):c.6768del (p.Leu2257fs) rs1569308524
NM_032608.7(MYO18B):c.6825G>A (p.Trp2275Ter)
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter) rs556752387
NM_032608.7(MYO18B):c.699dup (p.Gly234fs)
NM_032608.7(MYO18B):c.7373del (p.Ala2458fs) rs2147024104
NM_032608.7(MYO18B):c.7702T>G (p.Ter2568Glu) rs773577293

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