ClinVar Miner

List of variants in gene COL5A1 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 138
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HGVS dbSNP
GRCh37/hg19 9q34.3(chr9:137648314-137664433)x1
GRCh37/hg19 9q34.3(chr9:137721555-137730384)x1
NC_000009.12:g.134641788C>G
NC_000009.12:g.134829854del
NM_000093.4(COL5A1):c.-247T>G rs71483234
NM_000093.4(COL5A1):c.109+37G>A
NM_000093.4(COL5A1):c.1092C>T (p.Pro364=) rs41306391
NM_000093.4(COL5A1):c.110-178G>A
NM_000093.4(COL5A1):c.110-271C>T
NM_000093.4(COL5A1):c.1164+134A>C
NM_000093.4(COL5A1):c.1164+87T>A
NM_000093.4(COL5A1):c.1165-149C>T
NM_000093.4(COL5A1):c.1165-39G>A
NM_000093.4(COL5A1):c.1390-259G>A
NM_000093.4(COL5A1):c.1390-305C>T
NM_000093.4(COL5A1):c.1431G>A (p.Ala477=) rs61729545
NM_000093.4(COL5A1):c.1432-5T>C rs3128612
NM_000093.4(COL5A1):c.1662+252G>A
NM_000093.4(COL5A1):c.1720-111G>A
NM_000093.4(COL5A1):c.1720-157C>T
NM_000093.4(COL5A1):c.1720-158C>G
NM_000093.4(COL5A1):c.1774-73A>G
NM_000093.4(COL5A1):c.1827+295A>G
NM_000093.4(COL5A1):c.1828-170C>T
NM_000093.4(COL5A1):c.1828-297T>C
NM_000093.4(COL5A1):c.1881+292G>A
NM_000093.4(COL5A1):c.1882-133A>G
NM_000093.4(COL5A1):c.1882-256C>T
NM_000093.4(COL5A1):c.1935+127G>C
NM_000093.4(COL5A1):c.1935+133A>T
NM_000093.4(COL5A1):c.1936-299C>T
NM_000093.4(COL5A1):c.1989+279T>C
NM_000093.4(COL5A1):c.1990-219G>A
NM_000093.4(COL5A1):c.2034+256C>T
NM_000093.4(COL5A1):c.2088+227G>A
NM_000093.4(COL5A1):c.2089-288C>T
NM_000093.4(COL5A1):c.2134-116T>C
NM_000093.4(COL5A1):c.2134-238A>G
NM_000093.4(COL5A1):c.2233-62G>T
NM_000093.4(COL5A1):c.2286+146T>C
NM_000093.4(COL5A1):c.2286+66A>G
NM_000093.4(COL5A1):c.2287-260T>G
NM_000093.4(COL5A1):c.2331+191G>C
NM_000093.4(COL5A1):c.2332-291G>A
NM_000093.4(COL5A1):c.2385+250G>T
NM_000093.4(COL5A1):c.2430+196C>T
NM_000093.4(COL5A1):c.2430+20C>T rs3124932
NM_000093.4(COL5A1):c.2430+290A>G
NM_000093.4(COL5A1):c.2431-25G>A rs41310213
NM_000093.4(COL5A1):c.2484+118G>A
NM_000093.4(COL5A1):c.2485-146T>C
NM_000093.4(COL5A1):c.2485-147G>C
NM_000093.4(COL5A1):c.2485-160C>T
NM_000093.4(COL5A1):c.2485-183T>A
NM_000093.4(COL5A1):c.2485-191C>A
NM_000093.4(COL5A1):c.2485-34_2485-33insGGCA
NM_000093.4(COL5A1):c.2485-39_2485-38insT
NM_000093.4(COL5A1):c.2485-39_2485-38insTGT
NM_000093.4(COL5A1):c.2592+209T>C
NM_000093.4(COL5A1):c.2592+288C>T
NM_000093.4(COL5A1):c.2592+293A>G
NM_000093.4(COL5A1):c.2592+298G>A
NM_000093.4(COL5A1):c.2593-253A>C
NM_000093.4(COL5A1):c.2646+144T>C
NM_000093.4(COL5A1):c.2646+287G>A
NM_000093.4(COL5A1):c.2701-103C>A
NM_000093.4(COL5A1):c.2701-186T>C
NM_000093.4(COL5A1):c.2701-301G>A
NM_000093.4(COL5A1):c.2745+15A>T rs79481146
NM_000093.4(COL5A1):c.2745+66A>G
NM_000093.4(COL5A1):c.278-224T>C
NM_000093.4(COL5A1):c.2799+153C>T
NM_000093.4(COL5A1):c.2799+22C>T
NM_000093.4(COL5A1):c.2800-172T>C
NM_000093.4(COL5A1):c.2844+163T>G
NM_000093.4(COL5A1):c.2844+41G>T
NM_000093.4(COL5A1):c.2845-117A>G
NM_000093.4(COL5A1):c.2845-70A>G
NM_000093.4(COL5A1):c.2898+116G>A
NM_000093.4(COL5A1):c.2898+287TC[3]
NM_000093.4(COL5A1):c.2899-261G>A
NM_000093.4(COL5A1):c.2899-273C>T
NM_000093.4(COL5A1):c.2899-318A>G
NM_000093.4(COL5A1):c.2952+11A>T rs4240707
NM_000093.4(COL5A1):c.2953-235AG[3]
NM_000093.4(COL5A1):c.3007-36C>G
NM_000093.4(COL5A1):c.3258+150A>G
NM_000093.4(COL5A1):c.3259-22C>T
NM_000093.4(COL5A1):c.3367-280T>G
NM_000093.4(COL5A1):c.3474+255G>A
NM_000093.4(COL5A1):c.3474+64G>A
NM_000093.4(COL5A1):c.3475-299A>G
NM_000093.4(COL5A1):c.3528+295T>C
NM_000093.4(COL5A1):c.3529-172G>A
NM_000093.4(COL5A1):c.3745-18G>A rs45556931
NM_000093.4(COL5A1):c.3852+181A>G
NM_000093.4(COL5A1):c.3907-258A>G
NM_000093.4(COL5A1):c.4122+287G>A
NM_000093.4(COL5A1):c.4176+257C>G
NM_000093.4(COL5A1):c.4176+9T>G rs10858282
NM_000093.4(COL5A1):c.4231-183G>A
NM_000093.4(COL5A1):c.4231-228G>A
NM_000093.4(COL5A1):c.4446+134A>C
NM_000093.4(COL5A1):c.491+271C>T
NM_000093.4(COL5A1):c.492-280C>T
NM_000093.4(COL5A1):c.492-56T>C
NM_000093.4(COL5A1):c.654+213C>T
NM_000093.4(COL5A1):c.654+73G>A
NM_000093.4(COL5A1):c.655-142G>A
NM_000093.4(COL5A1):c.655-320G>A
NM_000093.4(COL5A1):c.738C>T (p.Thr246=) rs3124299
NM_000093.4(COL5A1):c.786+182T>G
NM_000093.4(COL5A1):c.786+271G>C
NM_000093.4(COL5A1):c.787-15G>A rs150200872
NM_000093.4(COL5A1):c.787-180G>A
NM_000093.4(COL5A1):c.924+194A>C
NM_000093.4(COL5A1):c.924+35C>A
NM_001278074.1(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_001278074.1(COL5A1):c.1332+46T>C rs3109675
NM_001278074.1(COL5A1):c.1332+92C>G rs3124310
NM_001278074.1(COL5A1):c.1432-24C>T rs3109677
NM_001278074.1(COL5A1):c.1570-59T>C rs12686426
NM_001278074.1(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_001278074.1(COL5A1):c.1720-34C>T rs73558067
NM_001278074.1(COL5A1):c.1720-48T>C rs10123014
NM_001278074.1(COL5A1):c.2232+36C>T rs45622539
NM_001278074.1(COL5A1):c.2593-45G>A rs45497895
NM_001278074.1(COL5A1):c.2701-22C>T rs4072883
NM_001278074.1(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_001278074.1(COL5A1):c.2845-37A>G rs3811159
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.4122G>A (p.Thr1374=) rs3827848
NM_001278074.1(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_001278074.1(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_001278074.1(COL5A1):c.787-42C>T rs3124302
NM_001278074.1(COL5A1):c.925-43G>A rs3128598
NM_001278074.1(COL5A1):c.925-49A>G rs3124308

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