List of variants in gene COL6A1 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_001848.3(COL6A1):c.1132G>C (p.Ala378Pro)	rs1057518005
NM_001848.3(COL6A1):c.1575+1G>A	rs1002726737
NM_001848.3(COL6A1):c.1761_1764dup (p.Pro589fs)	rs1603593491
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del)	rs1085307560
NM_001848.3(COL6A1):c.741C>A (p.Cys247Ter)	rs1057522053
NM_001848.3(COL6A1):c.769G>C (p.Gly257Arg)	rs762299598
NM_001848.3(COL6A1):c.859G>A (p.Gly287Arg)	rs1057521152
NM_001848.3(COL6A1):c.904G>A (p.Gly302Arg)	rs794727028
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp)	rs886044231
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg)	rs794727059

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