List of variants in gene COL6A2 reported as likely benign for Inborn genetic diseases

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.510C>T (p.Cys170=)	rs142328765	0.00318
NM_001849.4(COL6A2):c.3025G>A (p.Gly1009Ser)	rs35887009	0.00080
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)	rs138674440	0.00070
NM_001849.4(COL6A2):c.1097G>A (p.Arg366Gln)	rs368588676	0.00006
NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr)	rs374011338	0.00006
NM_001849.4(COL6A2):c.2755G>A (p.Ala919Thr)	rs372523558	0.00004
NM_001849.4(COL6A2):c.2249G>A (p.Arg750His)	rs779058606	0.00001

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