List of variants in gene COL1A1 reported as pathogenic by Mendelics

Minimum submission review status:		Collection method:
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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_000088.4(COL1A1):c.1192G>C (p.Gly398Arg)	rs72648319
NM_000088.4(COL1A1):c.1821+1G>A	rs66555264
NM_000088.4(COL1A1):c.2452-1G>C	rs72651667
NM_000088.4(COL1A1):c.2915del (p.Phe972fs)	rs1598288967
NM_000088.4(COL1A1):c.2990del (p.Pro997fs)	rs1598288648
NM_000088.4(COL1A1):c.358C>T (p.Arg120Ter)	rs762979302
NM_000088.4(COL1A1):c.432dup (p.Gly145fs)	rs72667016
NM_000088.4(COL1A1):c.608G>T (p.Gly203Val)	rs72667031
NM_000088.4(COL1A1):c.938del (p.Pro313fs)	rs1598298292
NM_000088.4(COL1A1):c.958-1G>C	rs72645352

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