ClinVar Miner

List of variants in gene COL5A1 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP
NM_000093.4(COL5A1):c.-14C>T rs1334351036
NM_000093.4(COL5A1):c.-17G>A rs1554772552
NM_000093.4(COL5A1):c.-28_-7del22 rs1554772545
NM_000093.4(COL5A1):c.-33G>T rs1057523091
NM_000093.4(COL5A1):c.-4C>G rs769694875
NM_000093.4(COL5A1):c.1044G>A (p.Thr348=) rs1246095864
NM_000093.4(COL5A1):c.1165-8C>T rs770303209
NM_000093.4(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.4(COL5A1):c.1197C>T (p.Asp399=) rs1024770210
NM_000093.4(COL5A1):c.1224G>A (p.Thr408=) rs139406076
NM_000093.4(COL5A1):c.1332+20C>T rs935688642
NM_000093.4(COL5A1):c.1368A>G (p.Gly456=) rs1554788483
NM_000093.4(COL5A1):c.1390-4C>T rs1382134438
NM_000093.4(COL5A1):c.1410G>A (p.Pro470=) rs148389741
NM_000093.4(COL5A1):c.1431+11G>A rs768116740
NM_000093.4(COL5A1):c.1432-18C>T rs761261485
NM_000093.4(COL5A1):c.1476C>T (p.Val492=) rs141093527
NM_000093.4(COL5A1):c.1527C>T (p.Ala509=) rs746510456
NM_000093.4(COL5A1):c.1720-3T>C rs960627780
NM_000093.4(COL5A1):c.1752G>A (p.Glu584=) rs376865199
NM_000093.4(COL5A1):c.1774-16C>T rs755041858
NM_000093.4(COL5A1):c.1794C>G (p.Gly598=) rs370565229
NM_000093.4(COL5A1):c.1809C>T (p.Ala603=) rs371345820
NM_000093.4(COL5A1):c.1818C>T (p.Pro606=) rs761257919
NM_000093.4(COL5A1):c.1827+16G>A rs745897562
NM_000093.4(COL5A1):c.1936-10C>T rs779506561
NM_000093.4(COL5A1):c.1936-15C>G rs755787951
NM_000093.4(COL5A1):c.1936-16C>G rs199694949
NM_000093.4(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_000093.4(COL5A1):c.194G>A (p.Arg65Gln) rs116003670
NM_000093.4(COL5A1):c.2034+18G>C rs200055343
NM_000093.4(COL5A1):c.2049G>C (p.Leu683=) rs1060504529
NM_000093.4(COL5A1):c.2079C>T (p.Pro693=) rs186098435
NM_000093.4(COL5A1):c.2088C>T (p.Pro696=) rs146757272
NM_000093.4(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_000093.4(COL5A1):c.210C>T (p.Gly70=) rs1161786135
NM_000093.4(COL5A1):c.2181C>A (p.Gly727=) rs201298716
NM_000093.4(COL5A1):c.2184C>A (p.Ala728=) rs150993138
NM_000093.4(COL5A1):c.2187+10C>T rs1057521575
NM_000093.4(COL5A1):c.219C>T (p.Val73=) rs774691915
NM_000093.4(COL5A1):c.2238C>T (p.Pro746=) rs373617798
NM_000093.4(COL5A1):c.231C>T (p.Val77=) rs767430471
NM_000093.4(COL5A1):c.2331+15C>T rs369093559
NM_000093.4(COL5A1):c.2332-9T>G rs1554797620
NM_000093.4(COL5A1):c.2386-9C>T rs1057523879
NM_000093.4(COL5A1):c.2391C>T (p.Ala797=) rs142347159
NM_000093.4(COL5A1):c.2398A>G (p.Ile800Val) rs146870918
NM_000093.4(COL5A1):c.2415C>T (p.Gly805=) rs769239532
NM_000093.4(COL5A1):c.2433T>C (p.Gly811=) rs1554798918
NM_000093.4(COL5A1):c.2482C>T (p.Arg828Trp) rs185912761
NM_000093.4(COL5A1):c.2484+6C>T rs576976549
NM_000093.4(COL5A1):c.2485-18C>T rs757531928
NM_000093.4(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_000093.4(COL5A1):c.2526T>C (p.Pro842=) rs763634004
NM_000093.4(COL5A1):c.2544C>A (p.Arg848=) rs201556585
NM_000093.4(COL5A1):c.2580C>A (p.Pro860=) rs762553184
NM_000093.4(COL5A1):c.2592+17G>A rs750947144
NM_000093.4(COL5A1):c.2593-15T>C rs747677530
NM_000093.4(COL5A1):c.2593-3C>T rs199895142
NM_000093.4(COL5A1):c.2646+12C>T rs751662116
NM_000093.4(COL5A1):c.2646+14G>A rs200583777
NM_000093.4(COL5A1):c.2676C>T (p.Gly892=) rs143161140
NM_000093.4(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491
NM_000093.4(COL5A1):c.2700+16C>T rs371771646
NM_000093.4(COL5A1):c.2701-12C>G rs751422216
NM_000093.4(COL5A1):c.2701-14T>C rs1554801400
NM_000093.4(COL5A1):c.2746-12C>G rs1554801436
NM_000093.4(COL5A1):c.2751G>A (p.Pro917=) rs200319017
NM_000093.4(COL5A1):c.2754G>A (p.Arg918=) rs776715400
NM_000093.4(COL5A1):c.277+20G>C rs772363522
NM_000093.4(COL5A1):c.278-4C>A rs1057522143
NM_000093.4(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_000093.4(COL5A1):c.2800-18C>T rs73664144
NM_000093.4(COL5A1):c.2817C>T (p.Asp939=) rs750716466
NM_000093.4(COL5A1):c.2845-17C>A rs368737278
NM_000093.4(COL5A1):c.2898+20C>T rs781174331
NM_000093.4(COL5A1):c.2899-13G>T rs761096695
NM_000093.4(COL5A1):c.2991C>T (p.Gly997=) rs766208976
NM_000093.4(COL5A1):c.2997C>T (p.Val999=) rs201897490
NM_000093.4(COL5A1):c.3006+17C>T rs140528268
NM_000093.4(COL5A1):c.3007-18C>G rs775358866
NM_000093.4(COL5A1):c.3054G>A (p.Gly1018=) rs369163868
NM_000093.4(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_000093.4(COL5A1):c.3087G>A (p.Pro1029=) rs774035950
NM_000093.4(COL5A1):c.3114+10T>C rs1057523401
NM_000093.4(COL5A1):c.3171T>C (p.Gly1057=) rs943030077
NM_000093.4(COL5A1):c.3201A>G (p.Pro1067=) rs773094034
NM_000093.4(COL5A1):c.3204+3G>A rs202054108
NM_000093.4(COL5A1):c.3205-18C>G rs199557977
NM_000093.4(COL5A1):c.3259-8C>T rs146461106
NM_000093.4(COL5A1):c.3276A>G (p.Arg1092=) rs1554803828
NM_000093.4(COL5A1):c.3294T>C (p.Ala1098=) rs949276689
NM_000093.4(COL5A1):c.3303C>A (p.Ile1101=) rs760754491
NM_000093.4(COL5A1):c.3366+18T>C rs751538872
NM_000093.4(COL5A1):c.3367-14_3367-12del rs750002182
NM_000093.4(COL5A1):c.3369C>T (p.Gly1123=) rs546229885
NM_000093.4(COL5A1):c.3402C>T (p.Asp1134=) rs138251296
NM_000093.4(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_000093.4(COL5A1):c.3441C>A (p.Gly1147=) rs755982747
NM_000093.4(COL5A1):c.3528+14C>T rs371865645
NM_000093.4(COL5A1):c.3528+19G>T rs200672136
NM_000093.4(COL5A1):c.3529-5C>T rs755227263
NM_000093.4(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.4(COL5A1):c.3573A>G (p.Pro1191=) rs564398230
NM_000093.4(COL5A1):c.363C>T (p.Asn121=) rs369180922
NM_000093.4(COL5A1):c.3690+6T>A rs375998368
NM_000093.4(COL5A1):c.36G>C (p.Ala12=) rs1029930975
NM_000093.4(COL5A1):c.3744+19C>T rs200498760
NM_000093.4(COL5A1):c.3750C>G (p.Pro1250=) rs192806271
NM_000093.4(COL5A1):c.37C>T (p.Leu13Phe) rs762625123
NM_000093.4(COL5A1):c.3900C>T (p.Gly1300=) rs879205988
NM_000093.4(COL5A1):c.3906+15G>A rs370937109
NM_000093.4(COL5A1):c.3906+15G>C rs370937109
NM_000093.4(COL5A1):c.3912C>T (p.Pro1304=) rs773909152
NM_000093.4(COL5A1):c.3960C>T (p.Ala1320=) rs1057524173
NM_000093.4(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_000093.4(COL5A1):c.4014+7A>G rs1554805661
NM_000093.4(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_000093.4(COL5A1):c.4068+17G>A rs1554805806
NM_000093.4(COL5A1):c.408C>T (p.Pro136=) rs376435758
NM_000093.4(COL5A1):c.4123-10C>T rs1057524402
NM_000093.4(COL5A1):c.4139C>A (p.Thr1380Asn) rs863223439
NM_000093.4(COL5A1):c.4197C>T (p.Gly1399=) rs1397888531
NM_000093.4(COL5A1):c.420C>T (p.Tyr140=) rs540553997
NM_000093.4(COL5A1):c.4231-16C>T rs1057522679
NM_000093.4(COL5A1):c.4287G>C (p.Gly1429=) rs936839849
NM_000093.4(COL5A1):c.42C>T (p.Arg14=) rs1554772576
NM_000093.4(COL5A1):c.4302C>T (p.Pro1434=) rs755495352
NM_000093.4(COL5A1):c.431C>T (p.Thr144Met) rs561761305
NM_000093.4(COL5A1):c.431_432delCGinsAT (p.Thr144Asn) rs864622040
NM_000093.4(COL5A1):c.4338+18G>C rs781247782
NM_000093.4(COL5A1):c.4386C>T (p.Gly1462=) rs759256816
NM_000093.4(COL5A1):c.4393-7C>T rs947083271
NM_000093.4(COL5A1):c.513C>T (p.Ser171=) rs754997436
NM_000093.4(COL5A1):c.528T>C (p.Asn176=) rs769674770
NM_000093.4(COL5A1):c.534C>T (p.Thr178=) rs1554781685
NM_000093.4(COL5A1):c.597C>G (p.Ile199Met) rs147008954
NM_000093.4(COL5A1):c.597C>T (p.Ile199=) rs147008954
NM_000093.4(COL5A1):c.615C>A (p.Ile205=) rs201286195
NM_000093.4(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_000093.4(COL5A1):c.655-16G>A rs371301230
NM_000093.4(COL5A1):c.753C>T (p.Thr251=) rs374813957
NM_000093.4(COL5A1):c.790A>C (p.Thr264Pro) rs863223440
NM_000093.4(COL5A1):c.82_84dupCTG (p.Leu28_Trp29insLeu) rs773994971
NM_000093.4(COL5A1):c.934C>G (p.Pro312Ala) rs140105243
NM_000093.4(COL5A1):c.9C>A (p.Val3=) rs1554772559

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