List of variants in gene combination COL6A3, LOC122889011 reported as likely benign for hereditary skeletal muscle disorder

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.6289C>T (p.Arg2097Trp)	rs148252611	0.00006
NM_004369.4(COL6A3):c.6312C>T (p.Gly2104=)	rs377074792	0.00004
NM_004369.4(COL6A3):c.6283-15C>T	rs757187481	0.00001
NM_004369.4(COL6A3):c.6291G>T (p.Arg2097=)	rs761280470	0.00001
NM_004369.4(COL6A3):c.6283-14G>A
NM_004369.4(COL6A3):c.6283-14G>T
NM_004369.4(COL6A3):c.6283-20C>T
NM_004369.4(COL6A3):c.6309+8A>G	rs2077385691
NM_004369.4(COL6A3):c.6310-17G>A
NM_004369.4(COL6A3):c.6310-17G>T
NM_004369.4(COL6A3):c.6312C>A (p.Gly2104=)
NM_004369.4(COL6A3):c.6318A>G (p.Val2106=)	rs1574974939

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