ClinVar Miner

List of variants in gene COL5A1 reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
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.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) rs78511105 0.03168
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02700
NM_000093.5(COL5A1):c.4393-9C>T rs11792181 0.02555
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_000093.5(COL5A1):c.1935+8T>G rs79195626 0.02373
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_000093.5(COL5A1):c.925-44C>T rs41302966 0.01210
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00543
NM_000093.5(COL5A1):c.4393-17C>T rs141152269 0.00515
NM_000093.5(COL5A1):c.-37G>A rs374979485 0.00508
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.573C>T (p.Leu191=) rs116715381 0.00312
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000093.5(COL5A1):c.2700+38G>A rs373636275 0.00199
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.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=) rs78215347 0.00101
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000093.5(COL5A1):c.1998C>T (p.Asp666=) rs143858735 0.00071
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000093.5(COL5A1):c.1495-11C>A rs199501759 0.00008
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1936-21G>A rs77716946
NM_000093.5(COL5A1):c.2592+16C>G rs145429817
NM_000093.5(COL5A1):c.2800-18C>A rs73664144

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