ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 75
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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.2032-39A>T rs6414122 0.95692
NM_000393.5(COL5A2):c.315C>A (p.Thr105=) rs4128539 0.93266
NM_000393.5(COL5A2):c.4113+47C>T rs12693526 0.71292
NM_000393.5(COL5A2):c.852+14C>T rs56310996 0.14063
NM_000393.5(COL5A2):c.568-10G>A rs58106884 0.13056
NM_000393.5(COL5A2):c.337-26T>C rs56380683 0.13043
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 0.06734
NM_000393.5(COL5A2):c.1311= (p.Pro437=) rs2229495 0.04238
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.1006-9C>T rs73978832 0.01552
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.98-12T>G rs117917418 0.01199
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272 0.01007
NM_000393.5(COL5A2):c.2661+20G>A rs79623676 0.00876
NM_000393.5(COL5A2):c.-34C>T rs114102476 0.00807
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 0.00748
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.2562C>T (p.Asp854=) rs148430780 0.00245
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=) rs78870279 0.00221
NM_000393.5(COL5A2):c.-50C>T rs183260194 0.00192
NM_000393.5(COL5A2):c.1618-19C>G rs189970491 0.00148
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893 0.00130
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600 0.00118
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409 0.00087
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166 0.00081
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756 0.00076
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 0.00069
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_000393.5(COL5A2):c.2770-5A>G rs370313198 0.00060
NM_000393.5(COL5A2):c.1456-20T>C rs150724439 0.00046
NM_000393.5(COL5A2):c.745-13G>A rs145442880 0.00038
NM_000393.5(COL5A2):c.1923+8T>C rs191193125 0.00029
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000393.5(COL5A2):c.2338-6T>C rs375291199 0.00020
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627 0.00018
NM_000393.5(COL5A2):c.1977+12T>G rs202204374 0.00011
NM_000393.5(COL5A2):c.906+9A>G rs761662868 0.00011
NM_000393.5(COL5A2):c.3039+7A>G rs369227715 0.00010
NM_000393.5(COL5A2):c.2715+11T>C rs371363636 0.00009
NM_000393.5(COL5A2):c.4114-11T>C rs587780908 0.00006
NM_000393.5(COL5A2):c.3588T>C (p.Ile1196=) rs201460445 0.00004
NM_000393.5(COL5A2):c.799-6A>G rs111586240 0.00002
NM_000393.5(COL5A2):c.1188C>T (p.Gly396=) rs863223485 0.00001
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=) rs770622592 0.00001
NM_000393.5(COL5A2):c.1455+6G>A rs113512079
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000393.5(COL5A2):c.2086-12del rs5837121
NM_000393.5(COL5A2):c.2086-13_2086-12del rs5837121
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313

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