ClinVar Miner

List of variants in gene COL12A1 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.9010+100G>T rs672648 0.91189
NM_004370.6(COL12A1):c.8752+246C>T rs516533 0.89087
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=) rs594012 0.87913
NM_004370.6(COL12A1):c.190+92T>A rs240433 0.87647
NM_004370.6(COL12A1):c.5524+189G>T rs240730 0.87608
NM_004370.6(COL12A1):c.5664+214C>T rs240727 0.87543
NM_004370.6(COL12A1):c.394+125G>A rs743003 0.85098
NM_004370.6(COL12A1):c.191-311A>G rs7768671 0.85085
NM_004370.6(COL12A1):c.2438-279T>C rs3777507 0.82991
NM_004370.6(COL12A1):c.6068-171C>T rs1412709 0.80527
NM_004370.6(COL12A1):c.8416-112C>T rs556674 0.77405
NM_004370.6(COL12A1):c.6608-161A>G rs51630 0.75112
NM_004370.6(COL12A1):c.7086+171C>A rs620129 0.74903
NM_004370.6(COL12A1):c.6461-316T>C rs6453815 0.72754
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser) rs970547 0.72620
NM_004370.6(COL12A1):c.5525-132A>G rs1332778 0.71264
NM_004370.6(COL12A1):c.7086+301G>C rs620619 0.69197
NM_004370.6(COL12A1):c.7086+44C>G rs499018 0.64589
NM_004370.6(COL12A1):c.6211-241T>A rs9443157 0.59221
NM_004370.6(COL12A1):c.5395-29G>A rs1332020 0.42606
NM_004370.6(COL12A1):c.5098-80G>A rs240737 0.37065
NM_004370.6(COL12A1):c.4287+167G>A rs184766 0.36139
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr) rs240736 0.29412
NM_004370.6(COL12A1):c.7519+70A>G rs17186509 0.18505
NM_004370.6(COL12A1):c.5525-306T>G rs240729 0.15717
NM_004370.6(COL12A1):c.2437+108G>A rs12198145 0.13297
NM_004370.6(COL12A1):c.2165-32G>T rs3777509 0.13296
NM_004370.6(COL12A1):c.2164+219G>A rs16886240 0.13281
NM_004370.6(COL12A1):c.7697+319T>C rs2300795 0.11365
NM_004370.6(COL12A1):c.8265+19A>T rs9447445 0.11270
NM_004370.6(COL12A1):c.7520-262T>A rs9443156 0.11129
NM_004370.6(COL12A1):c.8649+41C>T rs10943236 0.11125
NM_004370.6(COL12A1):c.1892-8_1892-6del rs199713791 0.10881
NM_004370.6(COL12A1):c.4000+96T>A rs240726 0.08990
NM_004370.6(COL12A1):c.8178+295G>A rs7758152 0.08973
NM_004370.6(COL12A1):c.7086+35G>A rs619607 0.07913
NM_004370.6(COL12A1):c.4827+191G>A rs11753997 0.07175
NM_004370.6(COL12A1):c.4561-80A>G rs75280438 0.05844
NM_004370.6(COL12A1):c.4560+282G>A rs58226666 0.05736
NM_004370.6(COL12A1):c.74-181C>G rs41269313 0.05562
NM_004370.6(COL12A1):c.3565+329C>T rs77827114 0.05420
NM_004370.6(COL12A1):c.4000+153C>T rs73749975 0.05398
NM_004370.6(COL12A1):c.7786A>G (p.Ile2596Val) rs35710072 0.05341
NM_004370.6(COL12A1):c.8416-89G>A rs61544138 0.05209
NM_004370.6(COL12A1):c.7519+274G>A rs6909123 0.04475
NM_004370.6(COL12A1):c.3443+48C>A rs171287 0.04314
NM_004370.6(COL12A1):c.6211-158A>G rs76961213 0.04240
NM_004370.6(COL12A1):c.6211-238C>T rs75409775 0.04211
NM_004370.6(COL12A1):c.8266-209A>C rs78887854 0.04204
NM_004370.6(COL12A1):c.7950+94A>G rs9447446 0.04203
NM_004370.6(COL12A1):c.9010+233G>A rs9447441 0.04137
NM_004370.6(COL12A1):c.73+25C>T rs240362 0.04065
NM_004370.6(COL12A1):c.9182-201C>A rs9443152 0.04050
NM_004370.6(COL12A1):c.4148-173C>T rs76140980 0.03927
NM_004370.6(COL12A1):c.8649+246G>A rs473777 0.03823
NM_004370.6(COL12A1):c.8178+260A>C rs75161929 0.03738
NM_004370.6(COL12A1):c.7951-234A>T rs79617818 0.03722
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val) rs35523808 0.03556
NM_004370.6(COL12A1):c.*210T>G rs80299357 0.03278
NM_004370.6(COL12A1):c.4561-263T>C rs113581411 0.02744
NM_004370.6(COL12A1):c.6210+103G>C rs78654791 0.02727
NM_004370.6(COL12A1):c.4001-10G>A rs73749974 0.02617
NM_004370.6(COL12A1):c.6211-29A>C rs78744454 0.02587
NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=) rs35429515 0.02487
NM_004370.6(COL12A1):c.3565+35A>G rs73749977 0.02458
NM_004370.6(COL12A1):c.3715+33A>T rs7769438 0.02458
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr) rs75535959 0.02433
NM_004370.6(COL12A1):c.5794+35A>G rs2295252 0.02388
NM_004370.6(COL12A1):c.3444-112T>G rs240742 0.02292
NM_004370.6(COL12A1):c.3444-23A>C rs3756789 0.02031
NM_004370.6(COL12A1):c.5225G>A (p.Arg1742His) rs79830915 0.02025
NM_004370.6(COL12A1):c.8523+25A>G rs3734191 0.01908
NM_004370.6(COL12A1):c.8524-220T>A rs9443155 0.01904
NM_004370.6(COL12A1):c.5525-266G>C rs240728 0.01897
NM_004370.6(COL12A1):c.1891+233G>A rs78489736 0.01753
NM_004370.6(COL12A1):c.1892-303G>A rs73747440 0.01715
NM_004370.6(COL12A1):c.8941+184T>C rs74728897 0.01626
NM_004370.6(COL12A1):c.8980T>C (p.Ser2994Pro) rs34846477 0.01603
NM_004370.6(COL12A1):c.6444A>T (p.Ile2148=) rs36002196 0.01590
NM_004370.6(COL12A1):c.834T>G (p.Ala278=) rs16886258 0.01455
NM_004370.6(COL12A1):c.1551A>G (p.Thr517=) rs34767467 0.01428
NM_004370.6(COL12A1):c.2007G>A (p.Ala669=) rs77790445 0.01425
NM_004370.6(COL12A1):c.2086T>C (p.Leu696=) rs116691242 0.01422
NM_004370.6(COL12A1):c.6848G>A (p.Gly2283Glu) rs77094372 0.01163
NM_004370.6(COL12A1):c.6198A>C (p.Pro2066=) rs34619869 0.01132
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939 0.00867
NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=) rs77425231 0.00776
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile) rs117038107 0.00776
NM_004370.6(COL12A1):c.2481G>A (p.Thr827=) rs35170847 0.00506
NM_004370.6(COL12A1):c.4957+50C>A rs2239642 0.00503
NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=) rs35292916 0.00501
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=) rs34830422 0.00420
NM_004370.6(COL12A1):c.6068-14T>A rs189714891 0.00278
NM_004370.6(COL12A1):c.8582G>A (p.Ser2861Asn) rs148065232 0.00261
NM_004370.6(COL12A1):c.8925A>G (p.Gly2975=) rs190820180 0.00027
NM_004370.6(COL12A1):c.1289-89_1289-88insTT rs200264422
NM_004370.6(COL12A1):c.1289-90del rs36085827
NM_004370.6(COL12A1):c.1289-99_1289-98dup rs36085827
NM_004370.6(COL12A1):c.1892-19dup rs11347601
NM_004370.6(COL12A1):c.1892-7del rs11347601
NM_004370.6(COL12A1):c.2711-21C>T rs41269311
NM_004370.6(COL12A1):c.2984-285A>T rs240740
NM_004370.6(COL12A1):c.3444-58del rs371546526
NM_004370.6(COL12A1):c.3566-275G>A rs588100
NM_004370.6(COL12A1):c.4287+241dup rs57726755
NM_004370.6(COL12A1):c.4560+103G>A rs77835025
NM_004370.6(COL12A1):c.5394+117C>T rs240734
NM_004370.6(COL12A1):c.5395-129G>T rs1332019
NM_004370.6(COL12A1):c.6460+74C>T rs79956561
NM_004370.6(COL12A1):c.6725-66G>T rs240722
NM_004370.6(COL12A1):c.8649+161A>T rs116793648
NM_004370.6(COL12A1):c.8752+108A>G rs3765496
NM_004370.6(COL12A1):c.9181+295del rs11289042
NM_004370.6(COL12A1):c.9182-115TA[11] rs61611291
NM_004370.6(COL12A1):c.9182-115TA[13] rs61611291
NM_004370.6(COL12A1):c.9182-115TA[14] rs61611291

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