ClinVar Miner

List of variants in gene COL5A2 reported as benign for Ehlers-Danlos syndrome, classic type, 1

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Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.3411T>C (p.Gly1137=) rs6434312 0.96092
NM_000393.5(COL5A2):c.1311A>G (p.Pro437=) rs2229495 0.95762
NM_000393.5(COL5A2):c.315C>A (p.Thr105=) rs4128539 0.93266
NM_000393.5(COL5A2):c.852+14C>T rs56310996 0.14063
NM_000393.5(COL5A2):c.568-10G>A rs58106884 0.13232
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596 0.09320
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525 0.09281
NM_000393.5(COL5A2):c.315= (p.Thr105=) rs4128539 0.06919
NM_000393.5(COL5A2):c.1311= (p.Pro437=) rs2229495 0.04193
NM_000393.5(COL5A2):c.3411= (p.Gly1137=) rs6434312 0.03908
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
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.4449C>T (p.Gly1483=) rs78905646 0.01586
NM_000393.5(COL5A2):c.403-16T>A rs117085226 0.01490
NM_000393.5(COL5A2):c.1006-9C>T rs73978832 0.01485
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01471
NM_000393.5(COL5A2):c.98-12T>G rs117917418 0.01288
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272 0.00924
NM_000393.5(COL5A2):c.2661+20G>A rs79623676 0.00876
NM_000393.5(COL5A2):c.1104+15T>C rs75486409 0.00772
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_000393.5(COL5A2):c.370-16C>T rs148220961 0.00708
NM_000393.5(COL5A2):c.2554-14A>G rs142429770 0.00703
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534 0.00687
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000393.5(COL5A2):c.2769+19A>T rs111609220 0.00481
NM_000393.5(COL5A2):c.2716-4C>T rs111644889 0.00479
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00232
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=) rs78870279 0.00221
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 0.00182
NM_000393.5(COL5A2):c.1618-19C>G rs189970491 0.00144
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200 0.00133
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756 0.00132
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893 0.00130
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600 0.00118
NM_000393.5(COL5A2):c.3039+15C>T rs114619770 0.00116
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395 0.00110
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00097
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409 0.00079
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166 0.00078
NM_000393.5(COL5A2):c.2931+11C>T rs184002749 0.00073
NM_000393.5(COL5A2):c.3364-17C>T rs201720941 0.00070
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00064
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916 0.00060
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=) rs143318792 0.00058
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00055
NM_000393.5(COL5A2):c.2770-5A>G rs370313198 0.00051
NM_000393.5(COL5A2):c.1456-20T>C rs150724439 0.00046
NM_000393.5(COL5A2):c.798+10C>T rs368165817 0.00044
NM_000393.5(COL5A2):c.322+18C>G rs201708256 0.00042
NM_000393.5(COL5A2):c.745-13G>A rs145442880 0.00038
NM_000393.5(COL5A2):c.3310-17T>A rs201791446 0.00036
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193 0.00032
NM_000393.5(COL5A2):c.1869+12G>A rs375194122 0.00031
NM_000393.5(COL5A2):c.2230-16T>A rs375334470 0.00029
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636 0.00026
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro) rs34395097 0.00018
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784 0.00017
NM_000393.5(COL5A2):c.2307T>A (p.Ile769=) rs763068575 0.00014
NM_000393.5(COL5A2):c.1716+9A>G rs201934598 0.00011
NM_000393.5(COL5A2):c.1977+12T>G rs202204374 0.00011
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=) rs372869641 0.00009
NM_000393.5(COL5A2):c.3465C>T (p.Gly1155=) rs574148843 0.00009
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly) rs200845884 0.00009
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543 0.00006
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln) rs144430633 0.00006
NM_000393.5(COL5A2):c.567+17G>T rs780672109 0.00006
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666 0.00005
NM_000393.5(COL5A2):c.4114-11T>C rs587780908 0.00005
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln) rs761126767 0.00005
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile) rs200703515 0.00005
NM_000393.5(COL5A2):c.233A>T (p.Asp78Val) rs201022138 0.00004
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552 0.00004
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val) rs886039197 0.00003
NM_000393.5(COL5A2):c.1478C>T (p.Pro493Leu) rs755909523 0.00003
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu) rs189320512 0.00003
NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp) rs756550702 0.00003
NM_000393.5(COL5A2):c.1463A>G (p.His488Arg) rs149305351 0.00002
NM_000393.5(COL5A2):c.1515C>T (p.Pro505=) rs552362833 0.00002
NM_000393.5(COL5A2):c.1818A>G (p.Gly606=) rs779425239 0.00002
NM_000393.5(COL5A2):c.2343C>T (p.Gly781=) rs762976916 0.00002
NM_000393.5(COL5A2):c.2661+13G>T rs534626192 0.00002
NM_000393.5(COL5A2):c.293A>G (p.Gln98Arg) rs374402209 0.00002
NM_000393.5(COL5A2):c.3019C>T (p.Pro1007Ser) rs1388564782 0.00002
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn) rs201186702 0.00002
NM_000393.5(COL5A2):c.4239C>T (p.Asp1413=) rs529257786 0.00002
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198 0.00002
NM_000393.5(COL5A2):c.906+10A>T rs776578452 0.00002
NM_000393.5(COL5A2):c.1524C>T (p.Asp508=) rs530691194 0.00001
NM_000393.5(COL5A2):c.1900A>C (p.Asn634His) rs1487147556 0.00001
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val) rs746454126 0.00001
NM_000393.5(COL5A2):c.2793C>T (p.Pro931=) rs952993848 0.00001
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu) rs1200990468 0.00001
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226 0.00001
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr) rs751955635 0.00001
NM_000393.5(COL5A2):c.3497C>G (p.Ala1166Gly) rs779028940 0.00001
NM_000393.5(COL5A2):c.383G>A (p.Arg128His) rs757439328 0.00001
NM_000393.5(COL5A2):c.3880C>T (p.Arg1294Cys) rs758136981 0.00001
NM_000393.5(COL5A2):c.414A>T (p.Gly138=) rs763787551 0.00001
NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=) rs531204336 0.00001
NM_000393.5(COL5A2):c.539C>A (p.Ser180Tyr) rs773211165 0.00001
NM_000393.5(COL5A2):c.68C>T (p.Ser23Leu) rs1335028282 0.00001
NM_000393.5(COL5A2):c.86A>G (p.Glu29Gly) rs780865605 0.00001
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser) rs538602187
NM_000393.5(COL5A2):c.1081A>G (p.Met361Val) rs76148000
NM_000393.5(COL5A2):c.1216G>A (p.Glu406Lys) rs1260535878
NM_000393.5(COL5A2):c.1455+6G>A rs113512079
NM_000393.5(COL5A2):c.1491C>A (p.Pro497=) rs570269920
NM_000393.5(COL5A2):c.16G>A (p.Ala6Thr) rs372910621
NM_000393.5(COL5A2):c.1717-9dup rs749225081
NM_000393.5(COL5A2):c.2086-12del rs5837121
NM_000393.5(COL5A2):c.2086-13_2086-12del rs5837121
NM_000393.5(COL5A2):c.2086-13_2086-12dup rs5837121
NM_000393.5(COL5A2):c.2086-23dup rs5837121
NM_000393.5(COL5A2):c.2291C>T (p.Pro764Leu) rs150260969
NM_000393.5(COL5A2):c.233A>G (p.Asp78Gly) rs201022138
NM_000393.5(COL5A2):c.2507G>C (p.Arg836Pro) rs751683516
NM_000393.5(COL5A2):c.2534T>C (p.Val845Ala)
NM_000393.5(COL5A2):c.2721T>A (p.Ala907=)
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln) rs6434313
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser) rs754018138
NM_000393.5(COL5A2):c.3310-19dup rs767565265
NM_000393.5(COL5A2):c.3363+17del rs759671468
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.799-15dup rs1169314276
NM_000393.5(COL5A2):c.961-11dup rs542134887
NM_000393.5(COL5A2):c.961-3del rs542134887

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