ClinVar Miner

List of variants studied for Bethlem myopathy 2 by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu) rs199702595 0.00042
NM_004370.6(COL12A1):c.4285G>A (p.Glu1429Lys) rs2533377068

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