List of variants in gene COL6A3 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)	rs398124119	0.00003
NM_004369.4(COL6A3):c.6210+1G>A	rs398124126
NM_004369.4(COL6A3):c.6282+1G>A	rs398124128
NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter)
NM_004369.4(COL6A3):c.6930+5G>A	rs749037028
NM_004369.4(COL6A3):c.8481del (p.Leu2828fs)	rs2106317762

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