List of variants reported as not provided for Ullrich congenital muscular dystrophy 1A

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.1970-3C>A	rs201879417	0.00118
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)	rs78427077	0.00026
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)	rs753966526	0.00006
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)	rs201996851	0.00005
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)	rs201227573	0.00004
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)	rs200167715	0.00002
NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys)	rs532656197	0.00002
NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met)	rs541703064	0.00002
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp)	rs371505180	0.00001
NM_001848.3(COL6A1):c.1002+6_1002+88del	rs1556425727
NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu)	rs1439633596
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)	rs535007570
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe)	rs111630733
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe)	rs2106349155
NM_004369.4(COL6A3):c.6354+1G>A	rs886042883
NM_004370.6(COL12A1):c.8319+1G>C	rs1768416586

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