List of variants in gene COL6A1 reported as pathogenic for Ullrich congenital muscular dystrophy 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001848.3(COL6A1):c.1741-6G>A	rs200334019	0.00016
NM_001848.3(COL6A1):c.1465del (p.Ala489fs)	rs797044458
NM_001848.3(COL6A1):c.1641_1642del (p.Asp548fs)	rs1569518771
NM_001848.3(COL6A1):c.1977C>G (p.Tyr659Ter)	rs121912937
NM_001848.3(COL6A1):c.234C>A (p.Tyr78Ter)
NM_001848.3(COL6A1):c.2460C>A (p.Cys820Ter)	rs2077858751
NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg)	rs267606746
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)	rs121912938
NM_001848.3(COL6A1):c.857del (p.Pro286fs)	rs797044457
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)	rs121912939
NM_001848.3(COL6A1):c.930+189C>T	rs1556425596

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