List of variants reported as uncertain significance for Ullrich congenital muscular dystrophy 1A by Baylor Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met)	rs145527336	0.00016
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp)	rs727502829	0.00004
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu)	rs755589190	0.00001
NM_001848.3(COL6A1):c.3052C>T (p.His1018Tyr)	rs2077865867	0.00001
NM_001848.3(COL6A1):c.79A>T (p.Arg27Trp)	rs1031520613	0.00001
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser)	rs768542626	0.00001
NM_001848.3(COL6A1):c.2024G>C (p.Ser675Thr)	rs2077848878
NM_001849.4(COL6A2):c.201C>T (p.Leu67=)	rs1601216910
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met)	rs148175795
NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu)	rs754840728
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp)	rs771424958

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