ClinVar Miner

List of variants in gene COL3A1 reported as benign

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 128
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HGVS dbSNP
GRCh37/hg19 2q32.2(chr2:189750863-189874460)x3
GRCh37/hg19 2q32.2(chr2:189821391-189856086)x3
GRCh37/hg19 2q32.2(chr2:189821391-189861158)x3
GRCh37/hg19 2q32.2(chr2:189829688-189856471)x3
GRCh37/hg19 2q32.2(chr2:189829688-189856671)x3
GRCh37/hg19 2q32.2(chr2:189829688-189856846)x3
GRCh37/hg19 2q32.2(chr2:189839498-189856086)x3
GRCh37/hg19 2q32.2(chr2:189839498-189856471)x4
GRCh37/hg19 2q32.2(chr2:189839498-189857709)x3
GRCh37/hg19 2q32.2(chr2:189841738-189856086)x4
GRCh37/hg19 2q32.2(chr2:189841738-189862890)x3
GRCh37/hg19 2q32.2(chr2:189841753-189857709)x1
GRCh37/hg19 2q32.2(chr2:189841916-189857336)x3
GRCh37/hg19 2q32.2(chr2:189853414-189856086)x4
NM_000090.3(COL3A1):c.*43A>G rs8224
NM_000090.3(COL3A1):c.*799_*800delAG rs13306265
NM_000090.3(COL3A1):c.1051-13G>A rs371934572
NM_000090.3(COL3A1):c.1149+59_1149+85del
NM_000090.3(COL3A1):c.114C>G (p.Ser38=) rs141241764
NM_000090.3(COL3A1):c.1150-13T>C rs201839712
NM_000090.3(COL3A1):c.1257C>T (p.Ala419=) rs41272837
NM_000090.3(COL3A1):c.1293+15T>A rs2271679
NM_000090.3(COL3A1):c.1348-13T>C rs753505868
NM_000090.3(COL3A1):c.1348-4delT rs758567906
NM_000090.3(COL3A1):c.1348-4dupT rs758567906
NM_000090.3(COL3A1):c.1476A>C (p.Gly492=) rs111683983
NM_000090.3(COL3A1):c.1509+7A>C rs201740954
NM_000090.3(COL3A1):c.1510-274G>T
NM_000090.3(COL3A1):c.1510-290C>T
NM_000090.3(COL3A1):c.1608+114A>C
NM_000090.3(COL3A1):c.1608+141A>G
NM_000090.3(COL3A1):c.1609-59T>C
NM_000090.3(COL3A1):c.1617C>T (p.Pro539=) rs141091206
NM_000090.3(COL3A1):c.1659T>A (p.Pro553=) rs41263751
NM_000090.3(COL3A1):c.1770T>C (p.Pro590=) rs80302667
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1815+18A>G rs28413125
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1816-14G>C rs7579815
NM_000090.3(COL3A1):c.1816-19T>C rs114299724
NM_000090.3(COL3A1):c.1851G>A (p.Gln617=) rs7579903
NM_000090.3(COL3A1):c.1869+134G>A
NM_000090.3(COL3A1):c.1869+88C>T
NM_000090.3(COL3A1):c.1870-74G>A
NM_000090.3(COL3A1):c.1924-102G>A
NM_000090.3(COL3A1):c.1924-184A>C
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.1977+9C>T rs184223621
NM_000090.3(COL3A1):c.1978-11C>T rs13306272
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.3(COL3A1):c.2022+5T>C rs41263765
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775
NM_000090.3(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255
NM_000090.3(COL3A1):c.2110G>A (p.Glu704Lys) rs863223362
NM_000090.3(COL3A1):c.2121+18C>A rs587780904
NM_000090.3(COL3A1):c.2244T>C (p.Gly748=) rs1801184
NM_000090.3(COL3A1):c.2283+219C>T
NM_000090.3(COL3A1):c.2337+23T>A rs2271682
NM_000090.3(COL3A1):c.2355C>G (p.Pro785=) rs148901664
NM_000090.3(COL3A1):c.2391+28delC rs3215251
NM_000090.3(COL3A1):c.2392-232A>G
NM_000090.3(COL3A1):c.2445+128G>A
NM_000090.3(COL3A1):c.2445+162C>T
NM_000090.3(COL3A1):c.2445+67A>G
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.2608-50C>T rs3765161
NM_000090.3(COL3A1):c.2608-79G>A
NM_000090.3(COL3A1):c.2661+22T>A rs28763878
NM_000090.3(COL3A1):c.2662-92G>C
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.282+85A>G
NM_000090.3(COL3A1):c.3039+16T>G rs41264443
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3202-14delT rs767971610
NM_000090.3(COL3A1):c.3202-36C>T rs10194304
NM_000090.3(COL3A1):c.3202-40G>A rs10194475
NM_000090.3(COL3A1):c.3202-90A>G
NM_000090.3(COL3A1):c.3228C>T (p.Pro1076=) rs200917999
NM_000090.3(COL3A1):c.3256-28G>A rs200449080
NM_000090.3(COL3A1):c.3336T>C (p.Pro1112=) rs749357239
NM_000090.3(COL3A1):c.3363+21G>C rs376559659
NM_000090.3(COL3A1):c.3525+19G>A rs781061046
NM_000090.3(COL3A1):c.3525+19delG rs138061246
NM_000090.3(COL3A1):c.3525+23G>C
NM_000090.3(COL3A1):c.3537C>A (p.Gly1179=) rs146837092
NM_000090.3(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3654G>T (p.Pro1218=) rs35759441
NM_000090.3(COL3A1):c.3774C>T (p.Pro1258=) rs149790711
NM_000090.3(COL3A1):c.3823+276_3823+277insA
NM_000090.3(COL3A1):c.3824-31C>A rs10204508
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.4011+8A>C rs781175426
NM_000090.3(COL3A1):c.4059= (p.Gln1353=) rs1516446
NM_000090.3(COL3A1):c.4059G>T (p.Gln1353His) rs1516446
NM_000090.3(COL3A1):c.4255-266G>A
NM_000090.3(COL3A1):c.4273A>G (p.Ser1425Gly) rs1415901923
NM_000090.3(COL3A1):c.447+190T>C
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.528+250T>A
NM_000090.3(COL3A1):c.560C>T (p.Thr187Ile) rs371583734
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.637-243G>A
NM_000090.3(COL3A1):c.690+162A>G
NM_000090.3(COL3A1):c.690+173T>A
NM_000090.3(COL3A1):c.690+174T>C
NM_000090.3(COL3A1):c.690+24G>T
NM_000090.3(COL3A1):c.79+204T>C
NM_000090.3(COL3A1):c.799-303C>G
NM_000090.3(COL3A1):c.799-56T>A
NM_000090.3(COL3A1):c.799-6delT rs767927599
NM_000090.3(COL3A1):c.799-86A>G
NM_000090.3(COL3A1):c.80-13A>C rs566189676
NM_000090.3(COL3A1):c.80-16C>T rs28763875
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.853-127A>G
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000090.3(COL3A1):c.951+223C>T
NM_000090.3:c.2337+23T>A
NM_000090.3:c.2391+28delC
NM_000090.3:c.2608-50C>T
NM_000090.3:c.3202-36C>T
NM_000090.3:c.3202-40G>A
NM_000090.3:c.4011+34A>G
NM_000090.3:c.4059T>G

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