Variants in gene COL6A3 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status:		Submission 2 (likely pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 7

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)	rs139260335	0.00057
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)	rs398124119	0.00003
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)	rs771941724	0.00001
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp)	rs1553553646
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter)	rs878854379
NM_004369.4(COL6A3):c.761del (p.Gly254fs)	rs780921503
NM_004369.4(COL6A3):c.9193C>T (p.Gln3065Ter)	rs886043992

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