ClinVar Miner

List of variants in gene COL3A1 studied for not specified

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Gene type:
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Total variants: 156
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HGVS dbSNP
NM_000090.3(COL3A1):c.*7C>T rs1057523029
NM_000090.3(COL3A1):c.1050+43G>T rs28763876
NM_000090.3(COL3A1):c.1051-13G>A rs371934572
NM_000090.3(COL3A1):c.1149+15T>C rs1553507809
NM_000090.3(COL3A1):c.114C>G (p.Ser38=) rs141241764
NM_000090.3(COL3A1):c.1150-13T>C rs201839712
NM_000090.3(COL3A1):c.1156C>T (p.Pro386Ser) rs757192342
NM_000090.3(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.3(COL3A1):c.121G>T (p.Asp41Tyr) rs794728035
NM_000090.3(COL3A1):c.1234G>T (p.Ala412Ser) rs768314657
NM_000090.3(COL3A1):c.123T>C (p.Asp41=) rs770961095
NM_000090.3(COL3A1):c.1257C>T (p.Ala419=) rs41272837
NM_000090.3(COL3A1):c.1293+15T>A rs2271679
NM_000090.3(COL3A1):c.130G>A (p.Val44Ile) rs79632685
NM_000090.3(COL3A1):c.1348-4dup rs758567906
NM_000090.3(COL3A1):c.13G>A (p.Val5Met) rs1461198652
NM_000090.3(COL3A1):c.1424C>T (p.Ala475Val) rs770168441
NM_000090.3(COL3A1):c.1431G>A (p.Gly477=) rs368765585
NM_000090.3(COL3A1):c.1450G>A (p.Glu484Lys) rs1559056497
NM_000090.3(COL3A1):c.1459G>T (p.Ala487Ser) rs1553508027
NM_000090.3(COL3A1):c.1461C>T (p.Ala487=) rs747522483
NM_000090.3(COL3A1):c.1476A>C (p.Gly492=) rs111683983
NM_000090.3(COL3A1):c.1509+5A>G rs572863064
NM_000090.3(COL3A1):c.1509+7_1509+21del rs781662866
NM_000090.3(COL3A1):c.1524G>A (p.Glu508=) rs761742677
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.1586T>C (p.Val529Ala) rs201980471
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.1701G>A (p.Gly567=) rs765802289
NM_000090.3(COL3A1):c.175T>G (p.Ser59Ala) rs1553506856
NM_000090.3(COL3A1):c.1770T>C (p.Pro590=) rs80302667
NM_000090.3(COL3A1):c.178G>A (p.Val60Ile) rs762028131
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.1816-6T>G rs1474453319
NM_000090.3(COL3A1):c.1820C>T (p.Pro607Leu) rs1039226542
NM_000090.3(COL3A1):c.1851G>A (p.Gln617=) rs7579903
NM_000090.3(COL3A1):c.1854A>T (p.Gly618=) rs370034518
NM_000090.3(COL3A1):c.1871G>T (p.Gly624Val) rs1553508463
NM_000090.3(COL3A1):c.18A>G (p.Gln6=) rs892404442
NM_000090.3(COL3A1):c.1923+13T>A rs1297328714
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410
NM_000090.3(COL3A1):c.1977+10G>A rs768976215
NM_000090.3(COL3A1):c.1977+8dup rs1553508546
NM_000090.3(COL3A1):c.1977+9C>T rs184223621
NM_000090.3(COL3A1):c.1978-11C>T rs13306272
NM_000090.3(COL3A1):c.1995C>T (p.Ala665=) rs149093989
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.2038C>T (p.Pro680Ser) rs372027308
NM_000090.3(COL3A1):c.2043T>C (p.Gly681=) rs768133491
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.2121+10C>T rs763630559
NM_000090.3(COL3A1):c.2121+18C>A rs587780904
NM_000090.3(COL3A1):c.219C>T (p.Asp73=) rs886038228
NM_000090.3(COL3A1):c.2242G>A (p.Gly748Ser) rs771585795
NM_000090.3(COL3A1):c.2244T>C (p.Gly748=) rs1801184
NM_000090.3(COL3A1):c.2283+19G>A rs1057524170
NM_000090.3(COL3A1):c.2337+13A>C rs774786064
NM_000090.3(COL3A1):c.2337+23T>A rs2271682
NM_000090.3(COL3A1):c.2391+28del rs3215251
NM_000090.3(COL3A1):c.2436T>C (p.Pro812=) rs1214826179
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.2490G>C (p.Pro830=) rs777361888
NM_000090.3(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739
NM_000090.3(COL3A1):c.2550T>C (p.Pro850=) rs794727586
NM_000090.3(COL3A1):c.2607+10G>A rs367789349
NM_000090.3(COL3A1):c.2607T>A (p.Pro869=) rs376643618
NM_000090.3(COL3A1):c.2608-50C>T rs3765161
NM_000090.3(COL3A1):c.2661+22T>A rs28763878
NM_000090.3(COL3A1):c.266C>T (p.Pro89Leu) rs139610730
NM_000090.3(COL3A1):c.2700C>T (p.Gly900=) rs112164939
NM_000090.3(COL3A1):c.2709G>A (p.Gly903=) rs1057524521
NM_000090.3(COL3A1):c.2712C>T (p.Pro904=) rs375673185
NM_000090.3(COL3A1):c.2802G>A (p.Ser934=) rs113870310
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.2823+20dup rs1553509197
NM_000090.3(COL3A1):c.2824-5A>G rs373994011
NM_000090.3(COL3A1):c.283-45G>T rs150919697
NM_000090.3(COL3A1):c.2862A>T (p.Gly954=) rs1377418572
NM_000090.3(COL3A1):c.2904G>A (p.Arg968=) rs780866547
NM_000090.3(COL3A1):c.2931+20A>G rs1553509243
NM_000090.3(COL3A1):c.3009G>T (p.Leu1003=) rs762167409
NM_000090.3(COL3A1):c.3019G>A (p.Ala1007Thr) rs201220788
NM_000090.3(COL3A1):c.3039+16T>G rs41264443
NM_000090.3(COL3A1):c.3040-18T>G rs369590025
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3069C>A (p.Gly1023=) rs778417073
NM_000090.3(COL3A1):c.3071G>A (p.Arg1024Gln) rs1484867480
NM_000090.3(COL3A1):c.3093+16G>A rs369029683
NM_000090.3(COL3A1):c.3132C>T (p.Gly1044=) rs369992399
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3201+8C>A rs765137525
NM_000090.3(COL3A1):c.3201+9C>G rs1057523125
NM_000090.3(COL3A1):c.3202-17G>A rs769789431
NM_000090.3(COL3A1):c.3202-36C>T rs10194304
NM_000090.3(COL3A1):c.3202-40G>A rs10194475
NM_000090.3(COL3A1):c.3204_3212CCCTGCTGG[3] (p.1069_1071PAG[3]) rs771791598
NM_000090.3(COL3A1):c.3228C>T (p.Pro1076=) rs200917999
NM_000090.3(COL3A1):c.3256-18C>G rs988209116
NM_000090.3(COL3A1):c.3256-28G>A rs200449080
NM_000090.3(COL3A1):c.334-13A>G rs375137220
NM_000090.3(COL3A1):c.334-4T>A rs1057522288
NM_000090.3(COL3A1):c.3363+21G>C rs376559659
NM_000090.3(COL3A1):c.3505A>C (p.Arg1169=) rs546664098
NM_000090.3(COL3A1):c.3525+17A>G rs1553509677
NM_000090.3(COL3A1):c.3525+19G>A rs781061046
NM_000090.3(COL3A1):c.3525+19del rs138061246
NM_000090.3(COL3A1):c.3607G>A (p.Ala1203Thr) rs550665335
NM_000090.3(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683
NM_000090.3(COL3A1):c.3630T>G (p.Gly1210=) rs771034601
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3654G>A (p.Pro1218=) rs35759441
NM_000090.3(COL3A1):c.3654G>T (p.Pro1218=) rs35759441
NM_000090.3(COL3A1):c.3693C>A (p.Thr1231=) rs368556405
NM_000090.3(COL3A1):c.3776C>T (p.Ala1259Val) rs148387626
NM_000090.3(COL3A1):c.3824-14T>A rs762561768
NM_000090.3(COL3A1):c.3824-14T>G rs762561768
NM_000090.3(COL3A1):c.3824-31C>A rs10204508
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.3963T>C (p.Ala1321=) rs1057523548
NM_000090.3(COL3A1):c.3984T>C (p.Phe1328=) rs749456336
NM_000090.3(COL3A1):c.4011+34A>G rs41265549
NM_000090.3(COL3A1):c.4011+8A>C rs781175426
NM_000090.3(COL3A1):c.4038T>C (p.Pro1346=) rs113753099
NM_000090.3(COL3A1):c.4059= (p.Gln1353=) rs1516446
NM_000090.3(COL3A1):c.4059G>T (p.Gln1353His) rs1516446
NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) rs779774302
NM_000090.3(COL3A1):c.408C>G (p.Gly136=) rs762388691
NM_000090.3(COL3A1):c.4281A>T (p.Thr1427=) rs1553510001
NM_000090.3(COL3A1):c.447+13C>T rs751726448
NM_000090.3(COL3A1):c.448-6C>A rs751856761
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.528+12T>C rs1057523141
NM_000090.3(COL3A1):c.546C>T (p.Pro182=) rs754584062
NM_000090.3(COL3A1):c.552C>T (p.Pro184=) rs1057521290
NM_000090.3(COL3A1):c.560C>T (p.Thr187Ile) rs371583734
NM_000090.3(COL3A1):c.582+12C>T rs41272799
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.690+3A>G rs1447080385
NM_000090.3(COL3A1):c.708C>G (p.Pro236=) rs775390389
NM_000090.3(COL3A1):c.745-37_745-20del rs1064794407
NM_000090.3(COL3A1):c.745-7T>C rs776306752
NM_000090.3(COL3A1):c.80-13A>C rs566189676
NM_000090.3(COL3A1):c.80-16C>T rs28763875
NM_000090.3(COL3A1):c.80-4del rs1064795869
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.996+10T>A rs369957068

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