ClinVar Miner

List of variants in gene COL1A1 reported as uncertain significance for not provided

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Total variants: 59
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HGVS dbSNP
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.3(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1621A>G (p.Thr541Ala) rs766204229
NM_000088.3(COL1A1):c.1767+3_1767+6delGAGT rs886042301
NM_000088.3(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465
NM_000088.3(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246
NM_000088.3(COL1A1):c.2143C>T (p.Pro715Ser) rs886043618
NM_000088.3(COL1A1):c.2180A>C (p.Gln727Pro) rs749032265
NM_000088.3(COL1A1):c.2283C>T (p.Gly761=)
NM_000088.3(COL1A1):c.2288G>A (p.Arg763His) rs144820445
NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214
NM_000088.3(COL1A1):c.2508C>T (p.Gly836=) rs200620805
NM_000088.3(COL1A1):c.2535A>C (p.Gly845=) rs886043649
NM_000088.3(COL1A1):c.2593C>T (p.Arg865Cys) rs1555572582
NM_000088.3(COL1A1):c.2614-8C>T rs886042649
NM_000088.3(COL1A1):c.2715C>T (p.Gly905=) rs779337831
NM_000088.3(COL1A1):c.277C>A (p.Pro93Thr) rs886042456
NM_000088.3(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.3(COL1A1):c.2944C>A (p.Pro982Thr) rs141117382
NM_000088.3(COL1A1):c.299-9G>T rs373041336
NM_000088.3(COL1A1):c.3025C>T (p.Pro1009Ser) rs794727663
NM_000088.3(COL1A1):c.3060C>T (p.Ala1020=) rs751239116
NM_000088.3(COL1A1):c.3094G>A (p.Ala1032Thr) rs374095521
NM_000088.3(COL1A1):c.3100-6C>T rs377123276
NM_000088.3(COL1A1):c.3207+8G>T rs866785621
NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556
NM_000088.3(COL1A1):c.3251G>A (p.Arg1084His) rs746341018
NM_000088.3(COL1A1):c.3258C>T (p.Pro1086=) rs200319927
NM_000088.3(COL1A1):c.3300C>T (p.Gly1100=)
NM_000088.3(COL1A1):c.3313A>G (p.Arg1105Gly) rs1555572101
NM_000088.3(COL1A1):c.334-5C>A rs115997082
NM_000088.3(COL1A1):c.3369+9G>T rs1009435359
NM_000088.3(COL1A1):c.3412G>T (p.Ala1138Ser) rs1064796592
NM_000088.3(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372
NM_000088.3(COL1A1):c.3761A>C (p.Asn1254Thr) rs766709517
NM_000088.3(COL1A1):c.3865G>C (p.Val1289Leu) rs780472683
NM_000088.3(COL1A1):c.3906C>T (p.Pro1302=) rs188887858
NM_000088.3(COL1A1):c.3923C>A (p.Ala1308Asp) rs1370247898
NM_000088.3(COL1A1):c.3944G>T (p.Ser1315Ile) rs1391247648
NM_000088.3(COL1A1):c.3963G>C (p.Lys1321Asn) rs764729498
NM_000088.3(COL1A1):c.3979G>A (p.Gly1327Ser) rs147104425
NM_000088.3(COL1A1):c.4005+5G>A rs778417218
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.4058C>A (p.Thr1353Asn) rs982770651
NM_000088.3(COL1A1):c.4081G>A (p.Glu1361Lys) rs141011435
NM_000088.3(COL1A1):c.4196G>A (p.Arg1399His) rs146035171
NM_000088.3(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133
NM_000088.3(COL1A1):c.436C>A (p.Pro146Thr)
NM_000088.3(COL1A1):c.472-4C>G
NM_000088.3(COL1A1):c.516C>T (p.Thr172=) rs377195143
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.740C>T (p.Pro247Leu) rs199626372
NM_000088.3(COL1A1):c.768C>T (p.Pro256=) rs199891984
NM_000088.3(COL1A1):c.865C>T (p.Pro289Ser) rs1057524833
NM_000088.3(COL1A1):c.910C>T (p.Arg304Cys)
NM_000088.3(COL1A1):c.964C>T (p.Arg322Cys) rs777644312

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