ClinVar Miner

List of variants in gene COL5A1 reported as benign for Ehlers-Danlos syndrome, classic type

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.1332+92C>G rs3124310 0.64521
NM_000093.5(COL5A1):c.4230+103T>C rs11792894 0.61932
NM_000093.5(COL5A1):c.1332+46T>C rs3109675 0.41683
NM_000093.5(COL5A1):c.4230+118C>T rs7847840 0.32683
NM_000093.5(COL5A1):c.1570-59T>C rs12686426 0.22376
NM_000093.5(COL5A1):c.4177-107T>C rs7854010 0.19207
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=) rs61729545 0.06122
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000093.5(COL5A1):c.925-44C>T rs41302966 0.01210
NM_000093.5(COL5A1):c.-110A>G rs180741151 0.00852
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00543
NM_000093.5(COL5A1):c.-37G>A rs374979485 0.00508
NM_000093.5(COL5A1):c.-382C>G rs555826102 0.00465
NM_000093.5(COL5A1):c.1333-8A>G rs145620416 0.00360
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_000093.5(COL5A1):c.240C>T (p.Asp80=) rs79724538 0.00288
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000093.5(COL5A1):c.-199C>T rs183791719 0.00162
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln) rs116003670 0.00162
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=) rs201166370 0.00124
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val) rs139788610 0.00087
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00028
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) rs748345448 0.00013
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
NM_000093.5(COL5A1):c.2331+15C>T rs369093559 0.00009
NM_000093.5(COL5A1):c.-4C>G rs769694875 0.00007
NM_000093.5(COL5A1):c.4231-9G>A rs570545638 0.00006
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu) rs144844792 0.00006
NM_000093.5(COL5A1):c.1936-21G>A rs77716946
NM_000093.5(COL5A1):c.3906+15G>C rs370937109

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