ClinVar Miner

List of variants reported as likely pathogenic for Bethlem myopathy 1A by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (8):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_004369.4(COL6A3):c.6422C>A (p.Pro2141His)	rs369169235	0.00010
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys)	rs2078408746	0.00001
NM_001849.4(COL6A2):c.1868C>T (p.Ser623Phe)	rs2123661865

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