List of variants in gene COL6A1 reported by OMIM

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp)	rs121912935
NM_001848.3(COL6A1):c.1056+1G>A	rs398123631
NM_001848.3(COL6A1):c.1056+2T>C	rs797044456
NM_001848.3(COL6A1):c.1465del (p.Ala489fs)	rs797044458
NM_001848.3(COL6A1):c.1577G>T (p.Gly526Val)	rs121912934
NM_001848.3(COL6A1):c.1977C>G (p.Tyr659Ter)	rs121912937
NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)	rs121912936
NM_001848.3(COL6A1):c.428+1G>A	rs1569517717
NM_001848.3(COL6A1):c.805-572_903+5delinsTCCCTCCCCATTTCC
NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg)	rs267606746
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)	rs121912938
NM_001848.3(COL6A1):c.857del (p.Pro286fs)	rs797044457
NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg)	rs121912939
NM_001848.3(COL6A1):c.931-1G>A	rs886042354

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