ClinVar Miner

List of variants in gene COL5A1 reported as uncertain significance by Ambry Genetics

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Total variants: 75
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HGVS dbSNP
NM_001278074.1(COL5A1):c.1021G>A (p.Val341Met) rs756703956
NM_001278074.1(COL5A1):c.1024C>T (p.Pro342Ser) rs886039023
NM_001278074.1(COL5A1):c.1105G>C (p.Asp369His) rs777935807
NM_001278074.1(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010
NM_001278074.1(COL5A1):c.1304C>T (p.Pro435Leu) rs772379819
NM_001278074.1(COL5A1):c.1307C>T (p.Ala436Val) rs144269434
NM_001278074.1(COL5A1):c.1333-3dup rs773903401
NM_001278074.1(COL5A1):c.1429G>A (p.Ala477Thr) rs774936702
NM_001278074.1(COL5A1):c.1430C>T (p.Ala477Val) rs763650548
NM_001278074.1(COL5A1):c.1507C>T (p.Arg503Cys) rs781485753
NM_001278074.1(COL5A1):c.1556T>C (p.Met519Thr) rs202069285
NM_001278074.1(COL5A1):c.1561A>G (p.Met521Val) rs535161301
NM_001278074.1(COL5A1):c.1637C>T (p.Ala546Val) rs557361751
NM_001278074.1(COL5A1):c.1754C>T (p.Pro585Leu) rs530442560
NM_001278074.1(COL5A1):c.1805C>T (p.Pro602Leu) rs749007253
NM_001278074.1(COL5A1):c.1900G>A (p.Gly634Ser) rs183627101
NM_001278074.1(COL5A1):c.191C>T (p.Thr64Met) rs777376620
NM_001278074.1(COL5A1):c.202T>C (p.Ser68Pro) rs1554780172
NM_001278074.1(COL5A1):c.2088C>T (p.Pro696=) rs146757272
NM_001278074.1(COL5A1):c.2092_2093delinsCA (p.Val698His) rs1554796087
NM_001278074.1(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171
NM_001278074.1(COL5A1):c.2503G>A (p.Gly835Ser) rs927467876
NM_001278074.1(COL5A1):c.2542C>T (p.Arg848Cys) rs762336160
NM_001278074.1(COL5A1):c.2543G>A (p.Arg848His) rs767925708
NM_001278074.1(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264
NM_001278074.1(COL5A1):c.2588A>T (p.Glu863Val) rs139788610
NM_001278074.1(COL5A1):c.2750C>T (p.Pro917Leu) rs375600865
NM_001278074.1(COL5A1):c.2842C>T (p.Arg948Trp) rs1030105888
NM_001278074.1(COL5A1):c.295G>T (p.Asp99Tyr) rs774095835
NM_001278074.1(COL5A1):c.2983C>A (p.Pro995Thr) rs187022757
NM_001278074.1(COL5A1):c.3014C>T (p.Thr1005Met) rs201220311
NM_001278074.1(COL5A1):c.301T>C (p.Ser101Pro) rs1554781476
NM_001278074.1(COL5A1):c.305T>C (p.Ile102Thr) rs1554781477
NM_001278074.1(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609
NM_001278074.1(COL5A1):c.3418G>A (p.Val1140Met) rs149616140
NM_001278074.1(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_001278074.1(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206
NM_001278074.1(COL5A1):c.350T>G (p.Val117Gly) rs1554781492
NM_001278074.1(COL5A1):c.353C>G (p.Ser118Cys) rs1554781494
NM_001278074.1(COL5A1):c.3594C>T (p.Gly1198=) rs146176718
NM_001278074.1(COL5A1):c.3595G>C (p.Glu1199Gln) rs867211079
NM_001278074.1(COL5A1):c.3649C>T (p.Pro1217Ser) rs139116598
NM_001278074.1(COL5A1):c.367C>G (p.Gln123Glu) rs142114921
NM_001278074.1(COL5A1):c.3698C>T (p.Pro1233Leu) rs886039091
NM_001278074.1(COL5A1):c.3711C>T (p.Gly1237=) rs763583510
NM_001278074.1(COL5A1):c.37C>T (p.Leu13Phe) rs762625123
NM_001278074.1(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451
NM_001278074.1(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_001278074.1(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179
NM_001278074.1(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748
NM_001278074.1(COL5A1):c.4162C>T (p.Pro1388Ser) rs61737942
NM_001278074.1(COL5A1):c.4175G>A (p.Arg1392Lys) rs863223479
NM_001278074.1(COL5A1):c.4234G>A (p.Glu1412Lys) rs376893441
NM_001278074.1(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663
NM_001278074.1(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702
NM_001278074.1(COL5A1):c.4351C>G (p.Leu1451Val) rs369740453
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.597C>G (p.Ile199Met) rs147008954
NM_001278074.1(COL5A1):c.598G>A (p.Asp200Asn) rs142890619
NM_001278074.1(COL5A1):c.599A>C (p.Asp200Ala) rs1554781695
NM_001278074.1(COL5A1):c.628C>T (p.Arg210Trp) rs1490728700
NM_001278074.1(COL5A1):c.660C>G (p.Asp220Glu) rs570691491
NM_001278074.1(COL5A1):c.67_69CTG[3] (p.Leu26_Leu28del) rs773994971
NM_001278074.1(COL5A1):c.67_69CTG[7] (p.Leu28dup) rs773994971
NM_001278074.1(COL5A1):c.739G>A (p.Ala247Thr) rs769115550
NM_001278074.1(COL5A1):c.754C>T (p.Pro252Ser) rs369781295
NM_001278074.1(COL5A1):c.773A>G (p.Asn258Ser) rs1554787566
NM_001278074.1(COL5A1):c.791C>T (p.Thr264Met) rs148548209
NM_001278074.1(COL5A1):c.803G>T (p.Gly268Val) rs145552797
NM_001278074.1(COL5A1):c.804C>T (p.Gly268=) rs147729713
NM_001278074.1(COL5A1):c.805G>A (p.Glu269Lys) rs761079177
NM_001278074.1(COL5A1):c.82C>A (p.Leu28Met) rs1312200383
NM_001278074.1(COL5A1):c.934C>G (p.Pro312Ala) rs140105243
NM_001278074.1(COL5A1):c.944C>T (p.Thr315Met) rs145093766

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