ClinVar Miner

List of variants in gene COL5A1 reported as likely benign by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=) rs561440698
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.5(COL5A1):c.2293C>T (p.Pro765Ser)
NM_000093.5(COL5A1):c.3115-14G>A
NM_000093.5(COL5A1):c.3429G>A (p.Pro1143=)
NM_000093.5(COL5A1):c.432G>T (p.Thr144=)
NM_000093.5(COL5A1):c.774T>C (p.Asn258=) rs199742873
NM_001278074.1(COL5A1):c.-110A>G rs180741151
NM_001278074.1(COL5A1):c.-37G>A rs374979485
NM_001278074.1(COL5A1):c.-382C>G rs555826102
NM_001278074.1(COL5A1):c.1062C>T (p.Asp354=) rs61737708
NM_001278074.1(COL5A1):c.1077G>A (p.Glu359=) rs201166370
NM_001278074.1(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_001278074.1(COL5A1):c.1163A>G (p.Asn388Ser) rs150837465
NM_001278074.1(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_001278074.1(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_001278074.1(COL5A1):c.1270A>G (p.Thr424Ala) rs535363331
NM_001278074.1(COL5A1):c.1333-8A>G rs145620416
NM_001278074.1(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_001278074.1(COL5A1):c.1440C>T (p.Pro480=) rs150940930
NM_001278074.1(COL5A1):c.1566G>A (p.Leu522=) rs61737941
NM_001278074.1(COL5A1):c.1569+15C>T rs62574081
NM_001278074.1(COL5A1):c.1935+8T>G rs79195626
NM_001278074.1(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_001278074.1(COL5A1):c.2031G>A (p.Glu677=) rs61737719
NM_001278074.1(COL5A1):c.2058G>A (p.Pro686=) rs143443499
NM_001278074.1(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_001278074.1(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171
NM_001278074.1(COL5A1):c.2386-6G>A rs373383768
NM_001278074.1(COL5A1):c.240C>T (p.Asp80=) rs79724538
NM_001278074.1(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_001278074.1(COL5A1):c.252C>T (p.Ser84=) rs151293601
NM_001278074.1(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_001278074.1(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264
NM_001278074.1(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_001278074.1(COL5A1):c.2745+15A>T rs79481146
NM_001278074.1(COL5A1):c.2751G>A (p.Pro917=) rs200319017
NM_001278074.1(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_001278074.1(COL5A1):c.2799+4T>C rs75815945
NM_001278074.1(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966
NM_001278074.1(COL5A1):c.2892C>T (p.Gly964=) rs78511105
NM_001278074.1(COL5A1):c.3014C>T (p.Thr1005Met) rs201220311
NM_001278074.1(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010
NM_001278074.1(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_001278074.1(COL5A1):c.3369C>T (p.Gly1123=) rs546229885
NM_001278074.1(COL5A1):c.3402C>T (p.Asp1134=) rs138251296
NM_001278074.1(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_001278074.1(COL5A1):c.3491C>T (p.Pro1164Leu) rs368305377
NM_001278074.1(COL5A1):c.3573A>G (p.Pro1191=) rs564398230
NM_001278074.1(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_001278074.1(COL5A1):c.3627C>T (p.Phe1209=) rs748000980
NM_001278074.1(COL5A1):c.367C>G (p.Gln123Glu) rs142114921
NM_001278074.1(COL5A1):c.378G>T (p.Gln126His) rs145178917
NM_001278074.1(COL5A1):c.37C>T (p.Leu13Phe) rs762625123
NM_001278074.1(COL5A1):c.3906+15G>C rs370937109
NM_001278074.1(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_001278074.1(COL5A1):c.4065C>T (p.Pro1355=) rs61737906
NM_001278074.1(COL5A1):c.4122G>A (p.Thr1374=) rs3827848
NM_001278074.1(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_001278074.1(COL5A1):c.4230+5C>T rs142248898
NM_001278074.1(COL5A1):c.4230+6G>A rs77176843
NM_001278074.1(COL5A1):c.4231-12G>A rs188473199
NM_001278074.1(COL5A1):c.431C>A (p.Thr144Lys) rs561761305
NM_001278074.1(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250
NM_001278074.1(COL5A1):c.4371G>A (p.Pro1457=) rs756096066
NM_001278074.1(COL5A1):c.4374C>T (p.Asp1458=) rs201335857
NM_001278074.1(COL5A1):c.4383C>T (p.Pro1461=) rs368551709
NM_001278074.1(COL5A1):c.4393-9C>T rs11792181
NM_001278074.1(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_001278074.1(COL5A1):c.446C>T (p.Pro149Leu) rs369971694
NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_001278074.1(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_001278074.1(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_001278074.1(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_001278074.1(COL5A1):c.761C>T (p.Ser254Leu) rs144844792
NM_001278074.1(COL5A1):c.787-15G>A rs150200872
NM_001278074.1(COL5A1):c.805G>A (p.Glu269Lys) rs761079177
NM_001278074.1(COL5A1):c.924+14G>A rs200595318
NM_001278074.1(COL5A1):c.996C>T (p.Asp332=) rs144763302

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