ClinVar Miner

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

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Gene type:
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Total variants: 66
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HGVS dbSNP
GRCh37/hg19 2q32.2(chr2:190032724-190040435)x1
NC_000002.12:g.189036526del rs142224900
NC_000002.12:g.189049047dup rs5837119
NC_000002.12:g.189050281_189050287del rs11277110
NC_000002.12:g.189089044_189089048dup rs141172366
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1158+79A>C rs6434317
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.5(COL5A2):c.1563+262C>T rs6434316
NM_000393.5(COL5A2):c.1717-241_1717-240insACTTT rs150346155
NM_000393.5(COL5A2):c.1717-76del rs74497802
NM_000393.5(COL5A2):c.1977+85G>C rs7424947
NM_000393.5(COL5A2):c.2031+279A>G rs72904403
NM_000393.5(COL5A2):c.2032-39A>T rs6414122
NM_000393.5(COL5A2):c.2085+143C>G rs6414121
NM_000393.5(COL5A2):c.2130+141T>G rs12989558
NM_000393.5(COL5A2):c.2131-148A>G rs10178611
NM_000393.5(COL5A2):c.2229+51T>C rs7556733
NM_000393.5(COL5A2):c.2445+98G>A rs6738371
NM_000393.5(COL5A2):c.2500-134A>G rs6750027
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.5(COL5A2):c.2715+236A>T rs62184180
NM_000393.5(COL5A2):c.2715+237A>T rs62184179
NM_000393.5(COL5A2):c.2715+238A>T rs62184178
NM_000393.5(COL5A2):c.2770-306A>G rs7423973
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543
NM_000393.5(COL5A2):c.3040-165G>A rs116497614
NM_000393.5(COL5A2):c.3147+325A>G rs13383261
NM_000393.5(COL5A2):c.3148-285G>A rs12693527
NM_000393.5(COL5A2):c.315= (p.Thr105=) rs4128539
NM_000393.5(COL5A2):c.322+157C>T rs4128538
NM_000393.5(COL5A2):c.337-310A>G rs72906375
NM_000393.5(COL5A2):c.3411= (p.Gly1137=) rs6434312
NM_000393.5(COL5A2):c.3465C>T (p.Gly1155=) rs574148843
NM_000393.5(COL5A2):c.3471+62C>T rs59397955
NM_000393.5(COL5A2):c.3526-324C>T rs10194682
NM_000393.5(COL5A2):c.3633+118G>A rs59631824
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.5(COL5A2):c.370-16C>T rs148220961
NM_000393.5(COL5A2):c.370-301G>A rs55850163
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.5(COL5A2):c.3925+279A>G rs77183421
NM_000393.5(COL5A2):c.403-16T>A rs117085226
NM_000393.5(COL5A2):c.403-42A>G rs73051214
NM_000393.5(COL5A2):c.4113+223G>T rs13393368
NM_000393.5(COL5A2):c.4113+282G>A rs13008197
NM_000393.5(COL5A2):c.4113+47C>T rs12693526
NM_000393.5(COL5A2):c.4114-212G>A rs4667259
NM_000393.5(COL5A2):c.4353+101A>G rs4666770
NM_000393.5(COL5A2):c.4353+70A>G rs7420715
NM_000393.5(COL5A2):c.457-325C>T rs56667101
NM_000393.5(COL5A2):c.567+275A>G rs72906316
NM_000393.5(COL5A2):c.568-10G>A rs58106884
NM_000393.5(COL5A2):c.568-181A>C rs60762885
NM_000393.5(COL5A2):c.691-261_691-260dup rs5837123
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.5(COL5A2):c.798+258T>C rs13416517
NM_000393.5(COL5A2):c.798+286A>G rs116226024
NM_000393.5(COL5A2):c.852+14C>T rs56310996
NM_000393.5(COL5A2):c.853-297A>G rs116435277
NM_000393.5(COL5A2):c.906+302C>T rs7426169
NM_000393.5(COL5A2):c.960+228G>A rs13421370
NM_000393.5(COL5A2):c.961-11dup rs542134887
NM_000393.5(COL5A2):c.98-240A>T rs7568732

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