ClinVar Miner

List of variants in gene COL5A2 reported as likely benign by PreventionGenetics

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Total variants: 22
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HGVS dbSNP
NM_000393.3(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.3(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.3(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.4(COL5A2):c.*19G>A rs199758990
NM_000393.4(COL5A2):c.1105-3T>C rs886038289
NM_000393.4(COL5A2):c.1716+12G>A rs745767713
NM_000393.4(COL5A2):c.2230-16T>A rs375334470
NM_000393.4(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030
NM_000393.4(COL5A2):c.249C>T (p.Ala83=) rs142388534
NM_000393.4(COL5A2):c.2770-15delT rs577038385
NM_000393.4(COL5A2):c.3201+14C>T rs368713290
NM_000393.4(COL5A2):c.322+8T>C rs372227642
NM_000393.4(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.4(COL5A2):c.3471+8A>T rs367643805
NM_000393.4(COL5A2):c.3864G>A (p.Ser1288=) rs754605516
NM_000393.4(COL5A2):c.3891T>C (p.Asp1297=) rs886038290
NM_000393.4(COL5A2):c.403-3T>C rs369733690
NM_000393.4(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.4(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.4(COL5A2):c.906+14A>G rs768645507
NM_000393.4(COL5A2):c.907-5C>A rs756538217
NM_000393.4(COL5A2):c.961-14T>C rs199880428

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