List of variants in gene COL1A1 studied for Ehlers-Danlos syndrome

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 151

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HGVS	dbSNP
NM_000088.3(COL1A1):c.*1087C>T	rs557843360
NM_000088.3(COL1A1):c.*1165C>G	rs149419718
NM_000088.3(COL1A1):c.*1175T>G	rs75713851
NM_000088.3(COL1A1):c.*1205C>G	rs551536386
NM_000088.3(COL1A1):c.*1233G>A	rs73987442
NM_000088.3(COL1A1):c.*1265C>T	rs567249120
NM_000088.3(COL1A1):c.*1324A>G	rs886053140
NM_000088.3(COL1A1):c.*194G>A	rs886053158
NM_000088.3(COL1A1):c.*202A>G	rs564917505
NM_000088.3(COL1A1):c.*21G>C	rs201085309
NM_000088.3(COL1A1):c.*378C>G	rs148131473
NM_000088.3(COL1A1):c.*437A>C	rs886053150
NM_000088.3(COL1A1):c.*623G>A	rs886053149
NM_000088.3(COL1A1):c.*631G>A	rs569577942
NM_000088.3(COL1A1):c.*682C>T	rs77720683
NM_000088.3(COL1A1):c.*733G>A	rs886053148
NM_000088.3(COL1A1):c.*744C>T	rs1061947
NM_000088.3(COL1A1):c.*795C>T	rs886053147
NM_000088.3(COL1A1):c.*815A>G	rs886053146
NM_000088.3(COL1A1):c.*88T>C	rs1061237
NM_000088.3(COL1A1):c.*981G>C	rs574167621
NM_000088.3(COL1A1):c.-115G>A	rs886053164
NM_000088.3(COL1A1):c.-23G>A	rs200689194
NM_000088.3(COL1A1):c.-66G>A	rs565562045
NM_000088.3(COL1A1):c.-98G>C	rs574683904
NM_000088.3(COL1A1):c.1002+10G>T	rs368316440
NM_000088.3(COL1A1):c.1005T>A (p.Gly335=)	rs375914028
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr)	rs139955975
NM_000088.3(COL1A1):c.1233C>T (p.Phe411=)	rs776387246
NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter)	rs72648326
NM_000088.3(COL1A1):c.1249C>G (p.Pro417Ala)	rs72648327
NM_000088.3(COL1A1):c.1249C>T (p.Pro417Ser)	rs72648327
NM_000088.3(COL1A1):c.1269C>T (p.Pro423=)	rs149301001
NM_000088.3(COL1A1):c.1299+1G>A	rs66490707
NM_000088.3(COL1A1):c.1300-8C>G	rs41317361
NM_000088.3(COL1A1):c.1300-8C>T	rs41317361
NM_000088.3(COL1A1):c.1375C>A (p.Pro459Thr)	rs751299130
NM_000088.3(COL1A1):c.1461+13G>T	rs371161009
NM_000088.3(COL1A1):c.1615-4C>A	rs41316657
NM_000088.3(COL1A1):c.1669-10C>A	rs886053162
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His)	rs1800211
NM_000088.3(COL1A1):c.1768-8C>T	rs193922142
NM_000088.3(COL1A1):c.177G>T (p.Arg59=)	rs1057297
NM_000088.3(COL1A1):c.1803C>T (p.Pro601=)	rs148275339
NM_000088.3(COL1A1):c.1821+1G>A	rs66555264
NM_000088.3(COL1A1):c.1821C>T (p.Val607=)	rs41316667
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr)	rs149561221
NM_000088.3(COL1A1):c.1888G>A (p.Glu630Lys)	rs775106436
NM_000088.3(COL1A1):c.1910C>G (p.Ala637Gly)	rs886053161
NM_000088.3(COL1A1):c.1930-14T>C	rs2696247
NM_000088.3(COL1A1):c.1983+9G>C	rs201091992
NM_000088.3(COL1A1):c.1983+9G>T	rs201091992
NM_000088.3(COL1A1):c.1984-5C>A	rs66592376
NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter)	rs72651642
NM_000088.3(COL1A1):c.2116G>A (p.Asp706Asn)	rs372215246
NM_000088.3(COL1A1):c.2167G>A (p.Ala723Thr)	rs150803124
NM_000088.3(COL1A1):c.2298T>C (p.Thr766=)	rs2734272
NM_000088.3(COL1A1):c.229G>A (p.Glu77Lys)	rs753683126
NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser)	rs67879854
NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala)	rs1800214
NM_000088.3(COL1A1):c.251C>G (p.Ala84Gly)	rs775095655
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=)	rs117672175
NM_000088.3(COL1A1):c.2613+13C>T	rs368380161
NM_000088.3(COL1A1):c.2613+14G>A	rs41316685
NM_000088.3(COL1A1):c.2743C>T (p.Pro915Ser)	rs756337302
NM_000088.3(COL1A1):c.2845C>T (p.Pro949Ser)	rs1434279534
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser)	rs193922153
NM_000088.3(COL1A1):c.298+7C>A	rs41317345
NM_000088.3(COL1A1):c.299-15C>T	rs199523510
NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys)	rs72653170
NM_000088.3(COL1A1):c.3099+7T>C	rs201682029
NM_000088.3(COL1A1):c.3099+7T>G	rs201682029
NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile)	rs575285203
NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala)	rs767525556
NM_000088.3(COL1A1):c.3243T>C (p.Val1081=)	rs1800217
NM_000088.3(COL1A1):c.334-5C>A	rs115997082
NM_000088.3(COL1A1):c.3423A>C (p.Arg1141=)	rs148737409
NM_000088.3(COL1A1):c.3424-6C>A	rs370865189
NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=)	rs1800218
NM_000088.3(COL1A1):c.3580G>A (p.Ala1194Thr)	rs769571473
NM_000088.3(COL1A1):c.3630C>T (p.His1210=)	rs745320719
NM_000088.3(COL1A1):c.3733A>T (p.Ile1245Phe)	rs199514372
NM_000088.3(COL1A1):c.3766G>A (p.Ala1256Thr)	rs148216434
NM_000088.3(COL1A1):c.3815-12G>T	rs201066018
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=)	rs34940368
NM_000088.3(COL1A1):c.4092G>A (p.Gln1364=)	rs886053160
NM_000088.3(COL1A1):c.4140G>C (p.Gln1380His)	rs886053159
NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=)	rs1800219
NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser)	rs147266928
NM_000088.3(COL1A1):c.4196G>A (p.Arg1399His)	rs146035171
NM_000088.3(COL1A1):c.4249-12G>A	rs2249492
NM_000088.3(COL1A1):c.4339G>A (p.Val1447Ile)	rs367952133
NM_000088.3(COL1A1):c.4372G>A (p.Val1458Ile)	rs138557594
NM_000088.3(COL1A1):c.472-1G>A	rs72667020
NM_000088.3(COL1A1):c.472-2A>T	rs72667019
NM_000088.3(COL1A1):c.528C>T (p.Ser176=)	rs748856187
NM_000088.3(COL1A1):c.543G>A (p.Met181Ile)	rs72667022
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala)	rs72667032
NM_000088.3(COL1A1):c.627C>T (p.Gly209=)	rs201136122
NM_000088.3(COL1A1):c.649A>T (p.Met217Leu)	rs763409550
NM_000088.3(COL1A1):c.658C>T (p.Arg220Ter)	rs72667036
NM_000088.3(COL1A1):c.750+12G>T	rs79480112
NM_000088.3(COL1A1):c.77G>A (p.Gly26Asp)	rs151171179
NM_000088.3(COL1A1):c.859-14T>G	rs17639446
NM_000088.3(COL1A1):c.904-9G>T	rs141726413
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys)	rs72645347
NM_000088.3(COL1A1):c.957+15C>T	rs779096006
NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg)	rs1555574303
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg)	rs72645357
NM_000088.4(COL1A1):c.*1011T>C
NM_000088.4(COL1A1):c.*1027G>T
NM_000088.4(COL1A1):c.*1088G>A
NM_000088.4(COL1A1):c.*1151C>T
NM_000088.4(COL1A1):c.*120T>C
NM_000088.4(COL1A1):c.*1316C>G
NM_000088.4(COL1A1):c.*285C>A
NM_000088.4(COL1A1):c.*342C>A
NM_000088.4(COL1A1):c.*356T>A
NM_000088.4(COL1A1):c.*502C>T
NM_000088.4(COL1A1):c.*548C>A
NM_000088.4(COL1A1):c.*73C>A
NM_000088.4(COL1A1):c.*836C>T
NM_000088.4(COL1A1):c.*837G>A
NM_000088.4(COL1A1):c.*88T>A
NM_000088.4(COL1A1):c.*93A>G
NM_000088.4(COL1A1):c.-57G>A
NM_000088.4(COL1A1):c.-98G>A
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=)
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe)
NM_000088.4(COL1A1):c.1155+12C>T
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=)
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr)
NM_000088.4(COL1A1):c.1554C>A (p.Gly518=)
NM_000088.4(COL1A1):c.1615-14C>T
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val)	rs561374961
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala)
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=)
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=)
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr)
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)	rs781491172
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=)	rs372044347
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys)
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His)
NM_000088.4(COL1A1):c.3815-10C>T
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser)
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=)
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=)	rs757759451
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met)
NM_000088.4(COL1A1):c.462C>T (p.Gly154=)	rs41317351
NM_000088.4(COL1A1):c.804+15A>C
NM_000088.4(COL1A1):c.957+10C>A	rs376179885

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