ClinVar Miner

List of variants reported as likely pathogenic for Compton-North congenital myopathy

Included ClinVar conditions (1):

Compton-North congenital myopathy

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001843.4(CNTN1):c.1683+1G>A	rs1555185778
NM_001843.4(CNTN1):c.2597_2710+7delinsTT	rs2120818344
NM_001843.4(CNTN1):c.704-1G>A
NM_001843.4(CNTN1):c.94+2T>C

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