List of variants in gene COL6A2 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_001849.4(COL6A2):c.1288G>A (p.Gly430Ser)	rs765430501	0.00004
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser)	rs778364096	0.00001
NM_001849.4(COL6A2):c.2539_2540dup (p.Gln847fs)	rs1413628703	0.00001
NM_001849.4(COL6A2):c.1117-35_1118dup	rs1555873698
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1])	rs773493556
NM_001849.4(COL6A2):c.1770+1del	rs886044215
NM_001849.4(COL6A2):c.2038_2039delinsA (p.Arg680fs)	rs1064795685
NM_001849.4(COL6A2):c.2593_2608dup (p.Asp870fs)	rs1555877258
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)	rs201854898
NM_001849.4(COL6A2):c.94G>T (p.Glu32Ter)	rs547648292

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