ClinVar Miner

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

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Total variants: 114
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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.278C>T (p.Ala93Val) rs41306397 0.00315
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.3855C>T (p.Gly1285=) rs139544503 0.00102
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.341C>A (p.Ala114Asp) rs147589613 0.00058
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met) rs142313124 0.00057
NM_000093.5(COL5A1):c.597C>G (p.Ile199Met) rs147008954 0.00054
NM_000093.5(COL5A1):c.3906+20G>A rs148053413 0.00047
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000093.5(COL5A1):c.3402C>T (p.Asp1134=) rs138251296 0.00037
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu) rs142114921 0.00031
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000093.5(COL5A1):c.4393-19C>T rs186732287 0.00024
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000093.5(COL5A1):c.2799+11G>A rs377322092 0.00018
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala) rs376144196 0.00015
NM_000093.5(COL5A1):c.3906+19C>T rs571788196 0.00014
NM_000093.5(COL5A1):c.1476C>T (p.Val492=) rs141093527 0.00013
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754 0.00010
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010 0.00009
NM_000093.5(COL5A1):c.2134-11G>C rs369317619 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000093.5(COL5A1):c.1495-11C>A rs199501759 0.00008
NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796 0.00008
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676 0.00006
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) rs761079177 0.00006
NM_000093.5(COL5A1):c.2013C>T (p.Pro671=) rs372082908 0.00005
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val) rs144269434 0.00004
NM_000093.5(COL5A1):c.219C>T (p.Val73=) rs774691915 0.00004
NM_000093.5(COL5A1):c.1827+11C>T rs374795810 0.00003
NM_000093.5(COL5A1):c.212C>T (p.Pro71Leu) rs779540528 0.00003
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171 0.00003
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val) rs774849517 0.00003
NM_000093.5(COL5A1):c.3564C>A (p.Ile1188=) rs766961124 0.00003
NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu) rs140244245 0.00003
NM_000093.5(COL5A1):c.3912C>T (p.Pro1304=) rs773909152 0.00003
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663 0.00003
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu) rs570691491 0.00003
NM_000093.5(COL5A1):c.735C>T (p.Asp245=) rs746769184 0.00003
NM_000093.5(COL5A1):c.1240G>A (p.Glu414Lys) rs763456705 0.00002
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys) rs758475317 0.00002
NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu) rs375600865 0.00002
NM_000093.5(COL5A1):c.57G>A (p.Leu19=) rs761259908 0.00002
NM_000093.5(COL5A1):c.2238C>T (p.Pro746=) rs373617798 0.00001
NM_000093.5(COL5A1):c.243G>A (p.Ala81=) rs540291731 0.00001
NM_000093.5(COL5A1):c.2543G>A (p.Arg848His) rs767925708 0.00001
NM_000093.5(COL5A1):c.2646+12C>T rs751662116 0.00001
NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu) rs772211736 0.00001
NM_000093.5(COL5A1):c.2845-8G>A rs775063630 0.00001
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu) rs771146636 0.00001
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=) rs755495352 0.00001
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val) rs188120737 0.00001
NM_000093.5(COL5A1):c.801C>T (p.Asp267=) rs778401280 0.00001
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1290C>T (p.Ile430=) rs572136244
NM_000093.5(COL5A1):c.1496G>C (p.Gly499Ala) rs1554792005
NM_000093.5(COL5A1):c.1827+12G>A rs1251697175
NM_000093.5(COL5A1):c.1882-5del rs1554793544
NM_000093.5(COL5A1):c.1920C>T (p.Gly640=) rs781663334
NM_000093.5(COL5A1):c.1936-21G>A rs77716946
NM_000093.5(COL5A1):c.1989+14C>T
NM_000093.5(COL5A1):c.2088+18C>G rs889625058
NM_000093.5(COL5A1):c.2262A>G (p.Gly754=) rs1836755970
NM_000093.5(COL5A1):c.2430+16C>T rs530385215
NM_000093.5(COL5A1):c.2592+16C>G rs145429817
NM_000093.5(COL5A1):c.2800-18C>A rs73664144
NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser) rs187022757
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.5(COL5A1):c.3945C>T (p.Gly1315=)
NM_000093.5(COL5A1):c.3952G>A (p.Gly1318Ser) rs1838678972
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu) rs2132853817
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.5(COL5A1):c.558G>A (p.Lys186=) rs1564397188
NM_000093.5(COL5A1):c.924+18G>C

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