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

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)	rs137964147	0.00057
NM_001848.3(COL6A1):c.1483C>T (p.Pro495Ser)	rs1569518677
NM_001848.3(COL6A1):c.1575+1G>A	rs1002726737
NM_001848.3(COL6A1):c.1813+2_1813+3del	rs2077836463
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg)	rs1471465037
NM_001848.3(COL6A1):c.787G>T (p.Gly263Cys)	rs1569517943
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val)	rs1603590649
NM_001848.3(COL6A1):c.904-39A>G	rs1569518138
NM_001848.3(COL6A1):c.928_930del (p.Lys310del)	rs886043114
NM_001848.3(COL6A1):c.930+189C>T	rs1556425596

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