List of variants in gene COL6A3 reported as pathogenic by Eurofins NTD LLC (GA)

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: 25

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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.8966-1G>C	rs767517186	0.00004
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)	rs398124119	0.00003
NM_004369.4(COL6A3):c.4366C>T (p.Arg1456Ter)	rs781043870	0.00001
NM_004369.4(COL6A3):c.2985_2988del (p.Ala996fs)	rs1559253935
NM_004369.4(COL6A3):c.4124del (p.Gln1375fs)	rs886042447
NM_004369.4(COL6A3):c.4835C>A (p.Ser1612Ter)	rs201532239
NM_004369.4(COL6A3):c.5010T>A (p.Tyr1670Ter)	rs886042402
NM_004369.4(COL6A3):c.5838+1G>T	rs1559234260
NM_004369.4(COL6A3):c.6064-2A>G	rs1553554384
NM_004369.4(COL6A3):c.6157-2A>C	rs886041434
NM_004369.4(COL6A3):c.6157G>T (p.Gly2053Cys)	rs1559228507
NM_004369.4(COL6A3):c.6175G>T (p.Gly2059Cys)	rs758124326
NM_004369.4(COL6A3):c.6210+1G>A	rs398124126
NM_004369.4(COL6A3):c.6220G>A (p.Gly2074Ser)	rs886044252
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp)	rs1553553646
NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp)	rs794727188
NM_004369.4(COL6A3):c.6282+1G>A	rs398124128
NM_004369.4(COL6A3):c.6354+1G>A	rs886042883
NM_004369.4(COL6A3):c.6354+1G>T	rs886042883
NM_004369.4(COL6A3):c.7024C>T (p.Arg2342Ter)	rs886043113
NM_004369.4(COL6A3):c.7542del (p.Phe2515fs)	rs886043519
NM_004369.4(COL6A3):c.761del (p.Gly254fs)	rs780921503
NM_004369.4(COL6A3):c.7796_7797del (p.Phe2599fs)	rs886042623
NM_004369.4(COL6A3):c.9193C>T (p.Gln3065Ter)	rs886043992

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