List of variants in gene COL6A2 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.1671+10A>G	rs915786	0.85505
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn)	rs2839110	0.74081
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)	rs1042917	0.45419
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=)	rs13052956	0.44324
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=)	rs13046639	0.44323
NM_001849.4(COL6A2):c.2184G>A (p.Val728=)	rs2839114	0.32526
NM_001849.4(COL6A2):c.1333-8T>C	rs73159701	0.17496
NM_001849.4(COL6A2):c.1609-10C>T	rs17357592	0.11767
NM_001849.4(COL6A2):c.663C>T (p.Pro221=)	rs59531343	0.09859
NM_001849.4(COL6A2):c.1770+4G>A	rs9981981	0.06098
NM_001849.4(COL6A2):c.714+9C>T	rs78822624	0.03502
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=)	rs16978875	0.03177
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn)	rs35881321	0.02685
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=)	rs61735829	0.01898
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr)	rs35139588	0.01019
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser)	rs141166141	0.00982
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys)	rs61735835	0.00931
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=)	rs61735830	0.00258
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)	rs117725825	0.00233
NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys)	rs200667230	0.00021
NM_001849.4(COL6A2):c.735+9C>T	rs377121540	0.00008
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val)	rs774521989	0.00005
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln)	rs139552940	0.00004
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu)	rs398123650
NM_001849.4(COL6A2):c.892G>A (p.Gly298Arg)	rs797045478
NM_001849.4(COL6A2):c.902G>T (p.Gly301Val)	rs1555872965

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