ClinVar Miner

List of variants in gene COL5A1 reported as likely benign for not specified

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Gene type:
ClinVar version:
Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000093.5(COL5A1):c.110-19T>C rs148294644 0.00239
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln) rs116003670 0.00162
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val) rs139788610 0.00087
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met) rs149616140 0.00087
NM_000093.5(COL5A1):c.3528+14C>T rs371865645 0.00086
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.2700+16C>T rs371771646 0.00056
NM_000093.5(COL5A1):c.3906+20G>A rs148053413 0.00047
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=) rs200319017 0.00044
NM_000093.5(COL5A1):c.924+14G>A rs200595318 0.00041
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn) rs142890619 0.00034
NM_000093.5(COL5A1):c.3006+17C>T rs140528268 0.00031
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00028
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000093.5(COL5A1):c.2844+20G>A rs200916696 0.00019
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=) rs368551709 0.00016
NM_000093.5(COL5A1):c.3114+12G>C rs528913410 0.00014
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.2845-17C>A rs368737278 0.00013
NM_000093.5(COL5A1):c.4290C>T (p.Ala1430=) rs368011067 0.00013
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=) rs199630108 0.00011
NM_000093.5(COL5A1):c.3528+19G>T rs200672136 0.00011
NM_000093.5(COL5A1):c.3750C>G (p.Pro1250=) rs192806271 0.00011
NM_000093.5(COL5A1):c.4113C>T (p.Pro1371=) rs143794669 0.00011
NM_000093.5(COL5A1):c.1428C>T (p.Pro476=) rs745633063 0.00010
NM_000093.5(COL5A1):c.2134-11G>C rs369317619 0.00009
NM_000093.5(COL5A1):c.2331+15C>T rs369093559 0.00009
NM_000093.5(COL5A1):c.3007-19A>G rs370503113 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_000093.5(COL5A1):c.3744+19C>T rs200498760 0.00009
NM_000093.5(COL5A1):c.2088C>T (p.Pro696=) rs146757272 0.00008
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=) rs564398230 0.00007
NM_000093.5(COL5A1):c.934C>G (p.Pro312Ala) rs140105243 0.00007
NM_000093.5(COL5A1):c.2646+14G>A rs200583777 0.00006
NM_000093.5(COL5A1):c.3205-18C>G rs199557977 0.00006
NM_000093.5(COL5A1):c.2034+18G>C rs200055343 0.00005
NM_000093.5(COL5A1):c.2097G>A (p.Thr699=) rs368590323 0.00005
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=) rs377123592 0.00005
NM_000093.5(COL5A1):c.2593-15T>C rs747677530 0.00005
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu) rs370311038 0.00004
NM_000093.5(COL5A1):c.219C>T (p.Val73=) rs774691915 0.00004
NM_000093.5(COL5A1):c.2398A>G (p.Ile800Val) rs146870918 0.00004
NM_000093.5(COL5A1):c.2592+17G>A rs750947144 0.00004
NM_000093.5(COL5A1):c.2997C>T (p.Val999=) rs201897490 0.00004
NM_000093.5(COL5A1):c.4393-7C>T rs947083271 0.00004
NM_000093.5(COL5A1):c.2079C>T (p.Pro693=) rs186098435 0.00003
NM_000093.5(COL5A1):c.2386-6G>A rs373383768 0.00003
NM_000093.5(COL5A1):c.2415C>T (p.Gly805=) rs769239532 0.00003
NM_000093.5(COL5A1):c.2991C>T (p.Gly997=) rs766208976 0.00003
NM_000093.5(COL5A1):c.-14C>T rs1334351036 0.00002
NM_000093.5(COL5A1):c.1332+20C>T rs935688642 0.00002
NM_000093.5(COL5A1):c.1431+11G>A rs768116740 0.00002
NM_000093.5(COL5A1):c.1818C>T (p.Pro606=) rs761257919 0.00002
NM_000093.5(COL5A1):c.1827+16G>A rs745897562 0.00002
NM_000093.5(COL5A1):c.3366+18T>C rs751538872 0.00002
NM_000093.5(COL5A1):c.420C>T (p.Tyr140=) rs540553997 0.00002
NM_000093.5(COL5A1):c.528T>C (p.Asn176=) rs769674770 0.00002
NM_000093.5(COL5A1):c.655-16G>A rs371301230 0.00002
NM_000093.5(COL5A1):c.-17G>A rs1554772552 0.00001
NM_000093.5(COL5A1):c.1044G>A (p.Thr348=) rs1246095864 0.00001
NM_000093.5(COL5A1):c.1053G>A (p.Pro351=) rs370018361 0.00001
NM_000093.5(COL5A1):c.1569+3G>A rs886038232 0.00001
NM_000093.5(COL5A1):c.1674G>A (p.Arg558=) rs746502968 0.00001
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=) rs376865199 0.00001
NM_000093.5(COL5A1):c.1936-10C>T rs779506561 0.00001
NM_000093.5(COL5A1):c.1936-15C>G rs755787951 0.00001
NM_000093.5(COL5A1):c.2238C>T (p.Pro746=) rs373617798 0.00001
NM_000093.5(COL5A1):c.2485-18C>T rs757531928 0.00001
NM_000093.5(COL5A1):c.2580C>A (p.Pro860=) rs762553184 0.00001
NM_000093.5(COL5A1):c.2593-3C>T rs199895142 0.00001
NM_000093.5(COL5A1):c.2646+12C>T rs751662116 0.00001
NM_000093.5(COL5A1):c.2701-12C>G rs751422216 0.00001
NM_000093.5(COL5A1):c.277+20G>C rs772363522 0.00001
NM_000093.5(COL5A1):c.2784G>A (p.Gly928=) rs774491536 0.00001
NM_000093.5(COL5A1):c.2817C>T (p.Asp939=) rs750716466 0.00001
NM_000093.5(COL5A1):c.3276A>G (p.Arg1092=) rs1554803828 0.00001
NM_000093.5(COL5A1):c.3294T>C (p.Ala1098=) rs949276689 0.00001
NM_000093.5(COL5A1):c.3441C>A (p.Gly1147=) rs755982747 0.00001
NM_000093.5(COL5A1):c.3529-5C>T rs755227263 0.00001
NM_000093.5(COL5A1):c.3900C>T (p.Gly1300=) rs879205988 0.00001
NM_000093.5(COL5A1):c.4176+19A>C rs746397034 0.00001
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=) rs755495352 0.00001
NM_000093.5(COL5A1):c.4338+18G>C rs781247782 0.00001
NM_000093.5(COL5A1):c.4392+16C>T rs763448522 0.00001
NM_000093.5(COL5A1):c.849C>T (p.Pro283=) rs761805821 0.00001
NM_000093.5(COL5A1):c.-28_-7del rs1554772545
NM_000093.5(COL5A1):c.-33G>T rs1057523091
NM_000093.5(COL5A1):c.1197C>T (p.Asp399=) rs1024770210
NM_000093.5(COL5A1):c.1368A>G (p.Gly456=) rs1554788483
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.1390-4C>T rs1382134438
NM_000093.5(COL5A1):c.1432-18C>T rs761261485
NM_000093.5(COL5A1):c.1719+14A>G
NM_000093.5(COL5A1):c.1720-3T>C rs960627780
NM_000093.5(COL5A1):c.1774-16C>T rs755041858
NM_000093.5(COL5A1):c.1794C>G (p.Gly598=) rs370565229
NM_000093.5(COL5A1):c.1936-16C>G rs199694949
NM_000093.5(COL5A1):c.2049G>C (p.Leu683=) rs1060504529
NM_000093.5(COL5A1):c.210C>T (p.Gly70=) rs1161786135
NM_000093.5(COL5A1):c.2181C>A (p.Gly727=) rs201298716
NM_000093.5(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_000093.5(COL5A1):c.2187+10C>T rs1057521575
NM_000093.5(COL5A1):c.231C>T (p.Val77=) rs767430471
NM_000093.5(COL5A1):c.2332-9T>G rs1554797620
NM_000093.5(COL5A1):c.2386-9C>T rs1057523879
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=) rs1554798918
NM_000093.5(COL5A1):c.2544C>A (p.Arg848=) rs201556585
NM_000093.5(COL5A1):c.2544C>T (p.Arg848=) rs201556585
NM_000093.5(COL5A1):c.2592+16C>T rs145429817
NM_000093.5(COL5A1):c.2676C>T (p.Gly892=) rs143161140
NM_000093.5(COL5A1):c.2701-14T>C rs1554801400
NM_000093.5(COL5A1):c.2754G>A (p.Arg918=) rs776715400
NM_000093.5(COL5A1):c.278-4C>A rs1057522143
NM_000093.5(COL5A1):c.2800-18C>T rs73664144
NM_000093.5(COL5A1):c.2845-15T>C rs886038233
NM_000093.5(COL5A1):c.3007-18C>G rs775358866
NM_000093.5(COL5A1):c.3054G>A (p.Gly1018=) rs369163868
NM_000093.5(COL5A1):c.3114+10T>C rs1057523401
NM_000093.5(COL5A1):c.3171T>C (p.Gly1057=) rs943030077
NM_000093.5(COL5A1):c.3201A>G (p.Pro1067=) rs773094034
NM_000093.5(COL5A1):c.3303C>A (p.Ile1101=) rs760754491
NM_000093.5(COL5A1):c.3367-14_3367-12del rs750002182
NM_000093.5(COL5A1):c.3495G>A (p.Gly1165=) rs886038234
NM_000093.5(COL5A1):c.3906+15G>A rs370937109
NM_000093.5(COL5A1):c.3906+15G>C rs370937109
NM_000093.5(COL5A1):c.4014+7A>G rs1554805661
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_000093.5(COL5A1):c.4068+17G>A rs1554805806
NM_000093.5(COL5A1):c.4123-10C>T rs1057524402
NM_000093.5(COL5A1):c.4139C>A (p.Thr1380Asn) rs863223439
NM_000093.5(COL5A1):c.4197C>T (p.Gly1399=) rs1397888531
NM_000093.5(COL5A1):c.4231-16C>T rs1057522679
NM_000093.5(COL5A1):c.4287G>C (p.Gly1429=) rs936839849
NM_000093.5(COL5A1):c.42C>T (p.Arg14=) rs1554772576
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.5(COL5A1):c.534C>T (p.Thr178=) rs1554781685
NM_000093.5(COL5A1):c.766G>A (p.Asp256Asn) rs886038237
NM_000093.5(COL5A1):c.9C>A (p.Val3=) rs1554772559

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