List of variants in gene COL1A1 reported by Institute of Human Genetics, University of Leipzig Medical Center

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe)	rs72645362	0.00001
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)	rs72648326
NM_000088.4(COL1A1):c.1299+5G>A	rs193922139
NM_000088.4(COL1A1):c.1461+2T>G	rs1907417140
NM_000088.4(COL1A1):c.2793del (p.Gly932fs)	rs1906866028
NM_000088.4(COL1A1):c.3128G>C (p.Gly1043Ala)	rs1906767501
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs)	rs1260429820
NM_000088.4(COL1A1):c.3769del (p.Arg1257fs)	rs1906559620
NM_000088.4(COL1A1):c.3814+1G>A

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