ClinVar Miner

List of variants in gene COL1A2 reported as benign for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.936+14C>T rs42518 0.81710
NM_000089.4(COL1A2):c.937-3C>T rs42519 0.81243
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524 0.80779
NM_000089.4(COL1A2):c.1446A>C (p.Pro482=) rs412777 0.35874
NM_000089.4(COL1A2):c.1665+15A>G rs421587 0.28734
NM_000089.4(COL1A2):c.246T>C (p.Asp82=) rs1800222 0.25224
NM_000089.4(COL1A2):c.*194C>T rs1060399 0.20320
NM_000089.4(COL1A2):c.87T>C (p.Thr29=) rs1801182 0.12315
NM_000089.4(COL1A2):c.*804G>T rs1062394 0.09387
NM_000089.4(COL1A2):c.3712-13C>T rs74335369 0.03051
NM_000089.4(COL1A2):c.1878G>T (p.Val626=) rs1800238 0.02599
NM_000089.4(COL1A2):c.82-12A>G rs143689469 0.01736
NM_000089.4(COL1A2):c.*205A>G rs6955879 0.01322
NM_000089.3(COL1A2):c.-287C>T rs190926256 0.00907
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=) rs62001059 0.00679
NM_000089.4(COL1A2):c.1036-12A>G rs41316929 0.00613
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_000089.4(COL1A2):c.*283T>C rs114837909 0.00448
NM_000089.4(COL1A2):c.2349+16G>C rs112603291 0.00405
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365 0.00404
NM_000089.4(COL1A2):c.*415T>G rs148913603 0.00367
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=) rs34038163 0.00352
NM_000089.4(COL1A2):c.975A>T (p.Gly325=) rs148063325 0.00340
NM_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_000089.4(COL1A2):c.122G>A (p.Arg41His) rs139528613 0.00310
NM_000089.4(COL1A2):c.595-20C>T rs192022673 0.00242
NM_000089.4(COL1A2):c.96+10C>T rs185341110 0.00242
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=) rs141688356 0.00235
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000089.4(COL1A2):c.*605A>G rs537557756 0.00181
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
NM_000089.4(COL1A2):c.3614G>A (p.Arg1205Gln) rs73428220 0.00167
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_000089.4(COL1A2):c.1350+11A>T rs193922160 0.00140
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_000089.4(COL1A2):c.582T>G (p.Ala194=) rs144540908 0.00113
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_000089.4(COL1A2):c.1971+18T>C rs41317174 0.00072
NM_000089.4(COL1A2):c.1405-16A>G rs73428205 0.00071
NM_000089.4(COL1A2):c.3585T>C (p.Cys1195=) rs1800253 0.00067
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_000089.4(COL1A2):c.892-13C>G rs200532328 0.00024
NM_000089.4(COL1A2):c.981C>T (p.Arg327=) rs141762645 0.00021
NM_000089.4(COL1A2):c.1353T>A (p.Gly451=) rs545459178 0.00017
NM_000089.4(COL1A2):c.*195C>T rs190115417 0.00016
NM_000089.4(COL1A2):c.226-6C>A rs199616511 0.00014
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_000089.4(COL1A2):c.2274C>T (p.Pro758=) rs541912705 0.00010
NM_000089.4(COL1A2):c.1825C>A (p.Arg609=) rs765398195 0.00006
NM_000089.4(COL1A2):c.2826C>T (p.Pro942=) rs199580542 0.00006
NM_000089.4(COL1A2):c.2967T>C (p.Pro989=) rs201760437 0.00006
NM_000089.4(COL1A2):c.671G>A (p.Arg224His) rs771139732 0.00006
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu) rs370234887 0.00005
NM_000089.4(COL1A2):c.2400C>T (p.Pro800=) rs139913150 0.00004
NM_000089.4(COL1A2):c.48C>T (p.Thr16=) rs780687409 0.00004
NM_000089.4(COL1A2):c.783T>C (p.Pro261=) rs200436925 0.00004
NM_000089.4(COL1A2):c.694-15T>C rs779799840 0.00003
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573 0.00001
NM_000089.4(COL1A2):c.1252-7del rs35587403
NM_000089.4(COL1A2):c.1446A>T (p.Pro482=) rs412777
NM_000089.4(COL1A2):c.1863+6dup
NM_000089.4(COL1A2):c.2079+15dup
NM_000089.4(COL1A2):c.2133+12C>A rs554520173
NM_000089.4(COL1A2):c.2563G>A (p.Ala855Thr) rs541473356
NM_000089.4(COL1A2):c.3135C>A (p.Gly1045=) rs1800248
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
NM_000089.4(COL1A2):c.52T>G (p.Cys18Gly) rs200278401
NM_000089.4(COL1A2):c.594+118del rs193922172
NM_000089.4(COL1A2):c.71-7del rs144776919
NM_000089.4(COL1A2):c.71-7dup rs144776919
NM_000089.4(COL1A2):c.71-8_71-7dup rs144776919
NM_000089.4(COL1A2):c.81+11del rs193922174
NM_000089.4(COL1A2):c.81+17_81+18del rs1791612191

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