ClinVar Miner

List of variants in gene COL1A2 studied for not specified

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Gene type:
ClinVar version:
Total variants: 91
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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.87T>C (p.Thr29=) rs1801182 0.12315
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.1036-12A>G rs41316929 0.00613
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
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.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.2700C>T (p.Ala900=) rs141688356 0.00235
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
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.3139G>A (p.Val1047Met) rs35820023 0.00139
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_000089.4(COL1A2):c.3712-80C>T rs114796185 0.00095
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000089.4(COL1A2):c.639+19A>T rs183516726 0.00024
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln) rs139446305 0.00021
NM_000089.4(COL1A2):c.1770A>G (p.Glu590=) rs138019868 0.00010
NM_000089.4(COL1A2):c.2717G>A (p.Arg906His) rs147063981 0.00010
NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=) rs745413783 0.00010
NM_000089.4(COL1A2):c.739-4T>G rs373527410 0.00009
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His) rs193922159 0.00004
NM_000089.4(COL1A2):c.783T>C (p.Pro261=) rs200436925 0.00004
NM_000089.4(COL1A2):c.1690G>A (p.Ala564Thr) rs41317153 0.00003
NM_000089.4(COL1A2):c.2187+18A>T rs757106839 0.00003
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys) rs1206388800 0.00003
NM_000089.4(COL1A2):c.1359T>C (p.Pro453=) rs768981392 0.00002
NM_000089.4(COL1A2):c.280-8C>T rs371996944 0.00002
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His) rs559605075 0.00002
NM_000089.4(COL1A2):c.1197+18C>A rs1200721271 0.00001
NM_000089.4(COL1A2):c.1198-16A>T rs984345878 0.00001
NM_000089.4(COL1A2):c.1503+11C>T rs538640615 0.00001
NM_000089.4(COL1A2):c.1719+15T>C rs746176634 0.00001
NM_000089.4(COL1A2):c.1764+13T>G rs780458719 0.00001
NM_000089.4(COL1A2):c.1971+17A>G rs1057524258 0.00001
NM_000089.4(COL1A2):c.2079+3A>G rs1226079110 0.00001
NM_000089.4(COL1A2):c.2122C>T (p.Arg708Trp) rs139199272 0.00001
NM_000089.4(COL1A2):c.2777G>A (p.Arg926His) rs200331961 0.00001
NM_000089.4(COL1A2):c.2781+10A>G rs760431398 0.00001
NM_000089.4(COL1A2):c.2868C>T (p.Pro956=) rs141516754 0.00001
NM_000089.4(COL1A2):c.2944-4A>T rs143220941 0.00001
NM_000089.4(COL1A2):c.3303A>G (p.Pro1101=) rs889862814 0.00001
NM_000089.4(COL1A2):c.3954+8A>G rs747626670 0.00001
NM_000089.4(COL1A2):c.793-20G>T rs770146997 0.00001
NM_000089.4(COL1A2):c.892-5C>T rs778088746 0.00001
NM_000089.4(COL1A2):c.1068G>C (p.Glu356Asp) rs1057518430
NM_000089.4(COL1A2):c.1252-7del rs35587403
NM_000089.4(COL1A2):c.1252-7dup rs35587403
NM_000089.4(COL1A2):c.1396G>A (p.Gly466Ser) rs1584321194
NM_000089.4(COL1A2):c.139C>A (p.Pro47Thr) rs771800420
NM_000089.4(COL1A2):c.1405-3C>T rs1021622151
NM_000089.4(COL1A2):c.1665+81del rs140284827
NM_000089.4(COL1A2):c.1886C>A (p.Ala629Asp)
NM_000089.4(COL1A2):c.2080-4A>G rs747898313
NM_000089.4(COL1A2):c.2082C>T (p.Gly694=) rs193229878
NM_000089.4(COL1A2):c.2133+12C>A rs554520173
NM_000089.4(COL1A2):c.226-11dup rs199593359
NM_000089.4(COL1A2):c.226-16T>C rs542458716
NM_000089.4(COL1A2):c.2462_2464del (p.Pro821del)
NM_000089.4(COL1A2):c.2674-6G>C rs771442891
NM_000089.4(COL1A2):c.2713G>T (p.Ala905Ser) rs1344095248
NM_000089.4(COL1A2):c.3000C>T (p.Gly1000=) rs1554398439
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
NM_000089.4(COL1A2):c.325-7C>A rs1057524020
NM_000089.4(COL1A2):c.3532_3543del (p.Tyr1178_Asp1181del) rs1554398685
NM_000089.4(COL1A2):c.3783C>T (p.Ala1261=) rs201393190
NM_000089.4(COL1A2):c.3942A>G (p.Val1314=)
NM_000089.4(COL1A2):c.433-16A>G rs964597288
NM_000089.4(COL1A2):c.541-18A>G rs1554395621
NM_000089.4(COL1A2):c.666A>G (p.Arg222=) rs1057523615
NM_000089.4(COL1A2):c.70+9C>T
NM_000089.4(COL1A2):c.71-7del rs144776919
NM_000089.4(COL1A2):c.792+17C>G rs1554395975
NM_000089.4(COL1A2):c.81+11del rs193922174
NM_000089.4(COL1A2):c.81+12T>C

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