ClinVar Miner

List of variants in gene combination COL12A1, LOC129996730 reported as likely pathogenic for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.4417+2_4417+3del

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