ClinVar Miner

List of variants in gene CCDC78 reported as likely pathogenic for congenital myopathy with internal nuclei and atypical cores

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp) rs200865845 0.00011

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