ClinVar Miner

List of variants in gene COL5A2 reported by PreventionGenetics

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Gene type:
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Total variants: 50
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HGVS dbSNP
NM_000393.5(COL5A2):c.*19G>A rs199758990
NM_000393.5(COL5A2):c.1006-9C>T rs73978832
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1104+15T>C rs75486409
NM_000393.5(COL5A2):c.1105-3T>C rs886038289
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.5(COL5A2):c.1618-19C>G rs189970491
NM_000393.5(COL5A2):c.1716+12G>A rs745767713
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.2032-39A>T rs6414122
NM_000393.5(COL5A2):c.2032-7G>A rs141571092
NM_000393.5(COL5A2):c.2230-16T>A rs375334470
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534
NM_000393.5(COL5A2):c.2554-14A>G rs142429770
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.2661+20G>A rs79623676
NM_000393.5(COL5A2):c.2716-4C>T rs111644889
NM_000393.5(COL5A2):c.2769+19A>T rs111609220
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.5(COL5A2):c.3201+14C>T rs368713290
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.337-26T>C rs56380683
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.5(COL5A2):c.370-16C>T rs148220961
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.5(COL5A2):c.3864G>A (p.Ser1288=) rs754605516
NM_000393.5(COL5A2):c.3891T>C (p.Asp1297=) rs886038290
NM_000393.5(COL5A2):c.403-16T>A rs117085226
NM_000393.5(COL5A2):c.403-3T>C rs369733690
NM_000393.5(COL5A2):c.4113+47C>T rs12693526
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.5(COL5A2):c.568-10G>A rs58106884
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.5(COL5A2):c.852+14C>T rs56310996
NM_000393.5(COL5A2):c.906+14A>G rs768645507
NM_000393.5(COL5A2):c.907-5C>A rs756538217
NM_000393.5(COL5A2):c.961-14T>C rs199880428
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474
NM_000393.5(COL5A2):c.98-12T>G rs117917418

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