ClinVar Miner

List of variants reported as uncertain significance for Bethlem myopathy 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly)	rs200167099	0.00007
NM_004370.6(COL12A1):c.4410A>T (p.Glu1470Asp)
NM_004370.6(COL12A1):c.4913A>C (p.His1638Pro)	rs769518880

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