List of variants reported as likely pathogenic for Bethlem myopathy 1A by Mendelics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NC_000002.11:g.238258810delG	rs794729205
NM_001848.3(COL6A1):c.1575+1G>A	rs1002726737
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)	rs794727419
NM_004369.4(COL6A3):c.6215_6225del (p.Glu2072fs)	rs1574976615
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn)	rs1574975196

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