List of variants in gene COL6A2 reported as benign for myosclerosis

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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.1671+10A>G	rs915786	0.86241
NM_001849.4(COL6A2):c.1332+26A>G	rs3737362	0.82158
NM_001849.4(COL6A2):c.1771-25A>G	rs2839113	0.81072
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn)	rs2839110	0.74122
NM_001849.4(COL6A2):c.2462-35C>T	rs7279622	0.54180
NM_001849.4(COL6A2):c.1116+32G>A	rs7279347	0.49217
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)	rs1042917	0.45419
NM_001849.4(COL6A2):c.928-19C>T	rs762438	0.45414
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=)	rs13046639	0.44460
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=)	rs13052956	0.44458
NM_001849.4(COL6A2):c.2184G>A (p.Val728=)	rs2839114	0.32526
NM_001849.4(COL6A2):c.1333-8T>C	rs73159701	0.17496
NM_001849.4(COL6A2):c.1609-10C>T	rs17357592	0.11879
NM_001849.4(COL6A2):c.663C>T (p.Pro221=)	rs59531343	0.09859
NM_001849.4(COL6A2):c.1770+4G>A	rs9981981	0.06098
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=)	rs16978875	0.03433
NM_001849.4(COL6A2):c.1672-24C>G	rs3746995
NM_001849.4(COL6A2):c.1817-3dup	rs149954350

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