ClinVar Miner

List of variants reported as uncertain significance for Bethlem myopathy 1A by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)	rs117725825	0.00233
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met)	rs747082651	0.00002
NM_001848.3(COL6A1):c.2756C>T (p.Ala919Val)

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