ClinVar Miner

List of variants in gene COL1A1 studied for Osteogenesis Imperfecta, Dominant

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Gene type:
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Total variants: 89
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HGVS dbSNP
NM_000088.3(COL1A1):c.*1007_*1008del rs886053144
NM_000088.3(COL1A1):c.*1026_*1028del rs751268781
NM_000088.3(COL1A1):c.*1027del rs878912123
NM_000088.3(COL1A1):c.*1028_*1029delTG rs878983048
NM_000088.3(COL1A1):c.*1029_*1031del rs886053143
NM_000088.3(COL1A1):c.*1030_*1031del rs886053142
NM_000088.3(COL1A1):c.*1045del rs886053141
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.*1384_*1387del rs886053139
NM_000088.3(COL1A1):c.*194G>A rs886053158
NM_000088.3(COL1A1):c.*202A>G rs564917505
NM_000088.3(COL1A1):c.*215del rs886053157
NM_000088.3(COL1A1):c.*21G>C rs201085309
NM_000088.3(COL1A1):c.*242_*244dup rs56302025
NM_000088.3(COL1A1):c.*243_*244dup rs56302025
NM_000088.3(COL1A1):c.*245_*246dup rs886053155
NM_000088.3(COL1A1):c.*245del rs886053156
NM_000088.3(COL1A1):c.*251dup rs886053154
NM_000088.3(COL1A1):c.*255dup rs886053153
NM_000088.3(COL1A1):c.*257_*258dup rs886053152
NM_000088.3(COL1A1):c.*258dup rs886053152
NM_000088.3(COL1A1):c.*259_*260insAT rs886053151
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.*681_*682insAGCA rs3840870
NM_000088.3(COL1A1):c.*682C>T rs77720683
NM_000088.3(COL1A1):c.*714C>T rs567392981
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.*998_*999del rs886053145
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.-78_-77delinsAA rs886053163
NM_000088.3(COL1A1):c.-98G>C rs574683904
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
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.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.1669-10C>A rs886053162
NM_000088.3(COL1A1):c.177G>T (p.Arg59=) rs1057297
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>T rs201091992
NM_000088.3(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246
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.2467C>G (p.Pro823Ala) rs1800214
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.2613+14G>A rs41316685
NM_000088.3(COL1A1):c.2743C>T (p.Pro915Ser) rs756337302
NM_000088.3(COL1A1):c.298+7C>A rs41317345
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.334-5C>A rs115997082
NM_000088.3(COL1A1):c.3424-6C>A rs370865189
NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=) rs1800218
NM_000088.3(COL1A1):c.3630C>T (p.His1210=) rs745320719
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.4249-12G>A rs2249492
NM_000088.3(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594
NM_000088.3(COL1A1):c.528C>T (p.Ser176=) rs748856187
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.859-14T>G rs17639446
NM_000088.3(COL1A1):c.957+15C>T rs779096006

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