ClinVar Miner

List of variants reported as likely pathogenic for Bailey-Bloch congenital myopathy

Included ClinVar conditions (1):

Bailey-Bloch congenital myopathy

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)	rs140291094	0.00039
NM_145064.3(STAC3):c.432+1G>A	rs780801708	0.00002
NM_145064.3(STAC3):c.670+2T>A

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