List of variants in gene COL1A1 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.3532-12C>T	rs200458986	0.00002
NM_000088.4(COL1A1):c.3045+11C>T	rs201349683	0.00001
NM_000088.4(COL1A1):c.103+16T>C	rs548069648
NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser)	rs1907516553
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)	rs66527965
NM_000088.4(COL1A1):c.2461G>A (p.Gly821Ser)	rs67693970
NM_000088.4(COL1A1):c.2490del (p.Asp831fs)	rs1906940130
NM_000088.4(COL1A1):c.2539G>T (p.Ala847Ser)	rs369455732
NM_000088.4(COL1A1):c.3168del (p.Val1057fs)	rs1555572254
NM_000088.4(COL1A1):c.3650G>C (p.Arg1217Pro)	rs762805085
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)	rs72645347

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