List of variants in gene COL1A1 reported as likely benign for Infantile cortical hyperostosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1615-4C>A	rs41316657	0.00846
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=)	rs148275339	0.00788
NM_000088.4(COL1A1):c.1821C>T (p.Val607=)	rs41316667	0.00750
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=)	rs34940368	0.00563
NM_000088.4(COL1A1):c.*1233G>A	rs73987442	0.00516
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)	rs1800219	0.00281
NM_000088.4(COL1A1):c.*1088G>A	rs191326459	0.00264
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)	rs149561221	0.00134
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser)	rs147266928	0.00087
NM_000088.4(COL1A1):c.1983+9G>C	rs201091992	0.00029
NM_000088.4(COL1A1):c.957+10C>A	rs376179885	0.00020
NM_000088.4(COL1A1):c.2613+13C>T	rs368380161	0.00011
NM_000088.4(COL1A1):c.*1265C>T	rs567249120	0.00003
NM_000088.4(COL1A1):c.243_244dup	rs56302025
NM_000088.4(COL1A1):c.681_682insAGCA	rs3840870
NM_000088.4(COL1A1):c.*88T>A	rs1061237
NM_000088.4(COL1A1):c.-98G>A	rs574683904
NM_000088.4(COL1A1):c.1983+9G>T	rs201091992

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