ClinVar Miner

List of variants in gene COL5A2 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.2229+51T>C rs7556733 0.95743
NM_000393.5(COL5A2):c.2032-39A>T rs6414122 0.95692
NM_000393.5(COL5A2):c.4353+101A>G rs4666770 0.90278
NM_000393.5(COL5A2):c.4353+70A>G rs7420715 0.90261
NM_000393.5(COL5A2):c.1977+85G>C rs7424947 0.89237
NM_000393.5(COL5A2):c.2500-134A>G rs6750027 0.87431
NM_000393.5(COL5A2):c.322+157C>T rs4128538 0.86911
NM_000393.5(COL5A2):c.906+302C>T rs7426169 0.73346
NM_000393.5(COL5A2):c.2130+141T>G rs12989558 0.72476
NM_000393.5(COL5A2):c.2131-148A>G rs10178611 0.72472
NM_000393.5(COL5A2):c.98-240A>T rs7568732 0.71351
NM_000393.5(COL5A2):c.3526-324C>T rs10194682 0.71303
NM_000393.5(COL5A2):c.4113+47C>T rs12693526 0.71292
NM_000393.5(COL5A2):c.4113+282G>A rs13008197 0.71287
NM_000393.5(COL5A2):c.4114-212G>A rs4667259 0.71286
NM_000393.5(COL5A2):c.1158+79A>C rs6434317 0.71265
NM_000393.5(COL5A2):c.1563+262C>T rs6434316 0.71226
NM_000393.5(COL5A2):c.2445+98G>A rs6738371 0.71058
NM_000393.5(COL5A2):c.2770-306A>G rs7423973 0.71058
NM_000393.5(COL5A2):c.2085+143C>G rs6414121 0.71056
NM_000393.5(COL5A2):c.2715+238A>T rs62184178 0.70707
NM_000393.5(COL5A2):c.2715+237A>T rs62184179 0.70698
NM_000393.5(COL5A2):c.2715+236A>T rs62184180 0.70696
NM_000393.5(COL5A2):c.3148-285G>A rs12693527 0.70389
NC_000002.12:g.189180039C>T rs11691604 0.57852
NM_000393.5(COL5A2):c.3147+325A>G rs13383261 0.17010
NM_000393.5(COL5A2):c.4113+223G>T rs13393368 0.15132
NM_000393.5(COL5A2):c.1717-76del rs74497802 0.14820
NM_000393.5(COL5A2):c.691-261_691-260dup rs5837123 0.14110
NM_000393.5(COL5A2):c.2716-141G>A rs72902380 0.14080
NM_000393.5(COL5A2):c.3310-164C>T rs72902361 0.14076
NM_000393.5(COL5A2):c.852+14C>T rs56310996 0.14063
NM_000393.5(COL5A2):c.691-58C>T rs60355473 0.14058
NM_000393.5(COL5A2):c.852+59C>A rs55963648 0.14058
NM_000393.5(COL5A2):c.906+62A>C rs57206096 0.14056
NM_000393.5(COL5A2):c.745-130C>T rs60860012 0.14055
NM_000393.5(COL5A2):c.906+178A>G rs55929725 0.14054
NM_000393.5(COL5A2):c.798+127G>A rs58532741 0.14045
NM_000393.5(COL5A2):c.852+161A>G rs55711740 0.14043
NM_000393.5(COL5A2):c.690+169A>G rs72904489 0.14039
NM_000393.5(COL5A2):c.1159-76C>T rs72904419 0.14029
NM_000393.5(COL5A2):c.798+99C>A rs57796506 0.14026
NM_000393.5(COL5A2):c.798+100A>T rs61311233 0.14021
NM_000393.5(COL5A2):c.568-181A>C rs60762885 0.13246
NM_000393.5(COL5A2):c.337-310A>G rs72906375 0.13072
NM_000393.5(COL5A2):c.457-325C>T rs56667101 0.13064
NM_000393.5(COL5A2):c.369+86C>A rs55977069 0.13062
NM_000393.5(COL5A2):c.456+232G>A rs72906354 0.13062
NM_000393.5(COL5A2):c.370-301G>A rs55850163 0.13057
NM_000393.5(COL5A2):c.568-10G>A rs58106884 0.13056
NM_000393.5(COL5A2):c.568-53C>T rs58243388 0.13056
NM_000393.5(COL5A2):c.337-26T>C rs56380683 0.13043
NM_000393.5(COL5A2):c.337-105A>T rs55765720 0.13042
NM_000393.5(COL5A2):c.2229+235T>A rs72902385 0.13041
NM_000393.5(COL5A2):c.567+275A>G rs72906316 0.13023
NM_000393.5(COL5A2):c.567+182G>T rs72906317 0.12959
NM_000393.5(COL5A2):c.3040-207T>C rs10931391 0.11258
NM_000393.5(COL5A2):c.2031+59T>A rs72904404 0.09421
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596 0.09320
NM_000393.5(COL5A2):c.3525+174A>G rs10207530 0.09308
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525 0.09281
NM_000393.5(COL5A2):c.3926-216T>G rs13421883 0.09265
NM_000393.5(COL5A2):c.3634-213T>A rs13429993 0.09241
NM_000393.5(COL5A2):c.2031+279A>G rs72904403 0.08306
NM_000393.5(COL5A2):c.3472-177T>C rs13392501 0.07978
NM_000393.5(COL5A2):c.3634-124G>A rs72902330 0.07502
NM_000393.5(COL5A2):c.3471+62C>T rs59397955 0.07291
NM_000393.5(COL5A2):c.*298G>A rs7586 0.07221
NM_000393.5(COL5A2):c.315= (p.Thr105=) rs4128539 0.06734
NM_000393.5(COL5A2):c.3633+118G>A rs59631824 0.05276
NM_000393.5(COL5A2):c.3925+279A>G rs77183421 0.05046
NM_000393.5(COL5A2):c.403-42A>G rs73051214 0.04827
NM_000393.5(COL5A2):c.798+258T>C rs13416517 0.04778
NM_000393.5(COL5A2):c.2931+233A>G rs61664338 0.04777
NM_000393.5(COL5A2):c.960+228G>A rs13421370 0.04061
NM_000393.5(COL5A2):c.3411= (p.Gly1137=) rs6434312 0.03908
NC_000002.12:g.189179936A>G rs7576519 0.03861
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_000393.5(COL5A2):c.2031+60A>T rs560894960 0.02531
NM_000393.5(COL5A2):c.3526-97G>A rs115638230 0.01984
NM_000393.5(COL5A2):c.4353+69C>T rs78854855 0.01927
NM_000393.5(COL5A2):c.853-297A>G rs116435277 0.01867
NM_000393.5(COL5A2):c.798+286A>G rs116226024 0.01866
NM_000393.5(COL5A2):c.3040-165G>A rs116497614 0.01845
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_000393.5(COL5A2):c.403-16T>A rs117085226 0.01199
NM_000393.5(COL5A2):c.370-16C>T rs148220961 0.00748
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 0.00199
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200 0.00133
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_000393.5(COL5A2):c.*848T>C rs72902303 0.00076
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954 0.00075
NM_000393.5(COL5A2):c.*904A>C rs778818824 0.00038
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr) rs200839338 0.00002
NM_000393.5(COL5A2):c.2337+27_2337+28insC rs1262131748 0.00002
GRCh37/hg19 2q32.2(chr2:190032724-190040435)x1
NM_000393.5(COL5A2):c.1059+120del rs5837122
NM_000393.5(COL5A2):c.1717-241_1717-240insACTTT rs150346155
NM_000393.5(COL5A2):c.2031+58T>A
NM_000393.5(COL5A2):c.2031+59del rs369656754
NM_000393.5(COL5A2):c.2337+29del rs34715449
NM_000393.5(COL5A2):c.2337+9dup rs34715449
NM_000393.5(COL5A2):c.2770-166_2770-162del rs144410979
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.3039+282_3039+288del rs11277110
NM_000393.5(COL5A2):c.3147+295dup rs397811419
NM_000393.5(COL5A2):c.3147+298dup rs5837119
NM_000393.5(COL5A2):c.3310-132CA[11] rs111268949
NM_000393.5(COL5A2):c.336+181del rs147860045
NM_000393.5(COL5A2):c.337-152C>G rs55905390
NM_000393.5(COL5A2):c.3525+207G>A rs10195023
NM_000393.5(COL5A2):c.403-143T>C rs72906358
NM_000393.5(COL5A2):c.4113+90del rs142224900
NM_000393.5(COL5A2):c.568-276_568-272dup rs141172366
NM_000393.5(COL5A2):c.645+116CATT[6] rs5837124
NM_000393.5(COL5A2):c.852+309del rs376308674

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