List of variants in gene COL1A1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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: 65

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1984-5C>A	rs66592376	0.00249
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr)	rs149561221	0.00134
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=)	rs148659814	0.00085
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)	rs147936946	0.00064
NM_000088.4(COL1A1):c.1587C>T (p.Pro529=)	rs113437353	0.00061
NM_000088.4(COL1A1):c.1461+7G>A	rs374268357	0.00054
NM_000088.4(COL1A1):c.3309C>T (p.Gly1103=)	rs142312753	0.00054
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=)	rs147743501	0.00044
NM_000088.4(COL1A1):c.1984-7C>G	rs376886366	0.00043
NM_000088.4(COL1A1):c.2716G>A (p.Gly906Ser)	rs145446512	0.00041
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala)	rs764381074	0.00038
NM_000088.4(COL1A1):c.2668-12A>G	rs200355573	0.00037
NM_000088.4(COL1A1):c.334-5C>A	rs115997082	0.00035
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala)	rs1800214	0.00031
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=)	rs375914028	0.00016
NM_000088.4(COL1A1):c.1206T>G (p.Ala402=)	rs141411256	0.00014
NM_000088.4(COL1A1):c.1347A>G (p.Gly449=)	rs757237837	0.00014
NM_000088.4(COL1A1):c.3124G>A (p.Ala1042Thr)	rs746939680	0.00008
NM_000088.4(COL1A1):c.1515+17G>A	rs778395663	0.00006
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=)	rs200188855	0.00006
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr)	rs150803124	0.00006
NM_000088.4(COL1A1):c.3978C>T (p.Phe1326=)	rs200145743	0.00006
NM_000088.4(COL1A1):c.4224C>T (p.Tyr1408=)	rs369138260	0.00006
NM_000088.4(COL1A1):c.1236T>C (p.Pro412=)	rs560859897	0.00005
NM_000088.4(COL1A1):c.690A>G (p.Gly230=)	rs776786081	0.00005
NM_000088.4(COL1A1):c.2355T>A (p.Gly785=)	rs137937544	0.00004
NM_000088.4(COL1A1):c.45C>T (p.Ala15=)	rs140295356	0.00004
NM_000088.4(COL1A1):c.298+6G>T	rs753705753	0.00003
NM_000088.4(COL1A1):c.4080C>T (p.Thr1360=)	rs753536372	0.00003
NM_000088.4(COL1A1):c.3222C>T (p.Pro1074=)	rs764134427	0.00002
NM_000088.4(COL1A1):c.336A>T (p.Gly112=)	rs749946056	0.00002
NM_000088.4(COL1A1):c.4041T>C (p.Asp1347=)	rs745797859	0.00002
NM_000088.4(COL1A1):c.1056+3G>A	rs367802613	0.00001
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=)	rs779337831	0.00001
NM_000088.4(COL1A1):c.3168C>T (p.Pro1056=)	rs913216741	0.00001
NM_000088.4(COL1A1):c.3246C>T (p.Gly1082=)	rs772906802	0.00001
NM_000088.4(COL1A1):c.334-4A>G	rs200621584	0.00001
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=)	rs370529603	0.00001
NM_000088.4(COL1A1):c.4200C>T (p.Ala1400=)	rs764510425	0.00001
NM_000088.4(COL1A1):c.663T>C (p.Gly221=)	rs770083936	0.00001
NM_000088.4(COL1A1):c.239_244dup
NM_000088.4(COL1A1):c.240_244del
NM_000088.4(COL1A1):c.241_244dup
NM_000088.4(COL1A1):c.242_244del
NM_000088.4(COL1A1):c.242_244dup	rs56302025
NM_000088.4(COL1A1):c.243_244del
NM_000088.4(COL1A1):c.243_244dup	rs56302025
NM_000088.4(COL1A1):c.*244del
NM_000088.4(COL1A1):c.*244dup
NM_000088.4(COL1A1):c.-7T>C
NM_000088.4(COL1A1):c.-8G>C
NM_000088.4(COL1A1):c.-9G>A
NM_000088.4(COL1A1):c.1003-30T>C
NM_000088.4(COL1A1):c.1011C>G (p.Thr337=)
NM_000088.4(COL1A1):c.1300-4G>A
NM_000088.4(COL1A1):c.1515+15C>T	rs758006385
NM_000088.4(COL1A1):c.1944T>C (p.Pro648=)	rs1301142840
NM_000088.4(COL1A1):c.1984-6C>T	rs373873548
NM_000088.4(COL1A1):c.2397+9A>C
NM_000088.4(COL1A1):c.2598C>G (p.Gly866=)	rs1388778878
NM_000088.4(COL1A1):c.3046-20CT[9]	rs138425306
NM_000088.4(COL1A1):c.370-6C>G
NM_000088.4(COL1A1):c.4006-40G>A
NM_000088.4(COL1A1):c.66C>T (p.Gly22=)
NM_000088.4(COL1A1):c.958-27T>G

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