ClinVar Miner

List of variants in gene COL3A1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 314
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HGVS dbSNP
NM_000090.3(COL3A1):c.*7C>T rs1057523029
NM_000090.3(COL3A1):c.-416A>G
NM_000090.3(COL3A1):c.101A>G (p.His34Arg) rs752110396
NM_000090.3(COL3A1):c.1024G>A (p.Gly342Arg) rs794728040
NM_000090.3(COL3A1):c.1028T>C (p.Phe343Ser) rs794728041
NM_000090.3(COL3A1):c.1030C>T (p.Pro344Ser) rs794728042
NM_000090.3(COL3A1):c.1051-13G>A rs371934572
NM_000090.3(COL3A1):c.1061_1062insTA (p.Pro355fs) rs1553507793
NM_000090.3(COL3A1):c.1106G>A (p.Gly369Glu) rs1057521930
NM_000090.3(COL3A1):c.1149+15T>C rs1553507809
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.1150-20T>C
NM_000090.3(COL3A1):c.1156C>T (p.Pro386Ser) rs757192342
NM_000090.3(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946
NM_000090.3(COL3A1):c.1188C>T (p.Gly396=) rs745743884
NM_000090.3(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.3(COL3A1):c.1204G>A (p.Gly402Ser) rs1064797017
NM_000090.3(COL3A1):c.1205_1206delinsAA (p.Gly402Glu) rs794728058
NM_000090.3(COL3A1):c.121G>T (p.Asp41Tyr) rs794728035
NM_000090.3(COL3A1):c.1222G>A (p.Gly408Arg) rs1064794552
NM_000090.3(COL3A1):c.1223G>A (p.Gly408Glu) rs794728043
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.1267G>A (p.Gly423Ser) rs587779631
NM_000090.3(COL3A1):c.1268G>A (p.Gly423Asp) rs587779586
NM_000090.3(COL3A1):c.1293+15T>A rs2271679
NM_000090.3(COL3A1):c.1294G>A (p.Gly432Ser) rs794728045
NM_000090.3(COL3A1):c.130G>A (p.Val44Ile) rs79632685
NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.3(COL3A1):c.1338T>A (p.Arg446=) rs1553507953
NM_000090.3(COL3A1):c.1342G>A (p.Glu448Lys) rs1553507955
NM_000090.3(COL3A1):c.1348-4del rs758567906
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.1461C>T (p.Ala487=) rs747522483
NM_000090.3(COL3A1):c.1471C>T (p.Arg491Ter) rs1057518075
NM_000090.3(COL3A1):c.1472G>A (p.Arg491Gln) rs774551212
NM_000090.3(COL3A1):c.1476A>C (p.Gly492=) rs111683983
NM_000090.3(COL3A1):c.1484G>C (p.Gly495Ala) rs1057524653
NM_000090.3(COL3A1):c.1509+10T>C
NM_000090.3(COL3A1):c.1509+5A>G rs572863064
NM_000090.3(COL3A1):c.1509+83C>T
NM_000090.3(COL3A1):c.1510-274G>T
NM_000090.3(COL3A1):c.1510-290C>T
NM_000090.3(COL3A1):c.1524G>A (p.Glu508=) rs761742677
NM_000090.3(COL3A1):c.1526G>A (p.Arg509His) rs568986390
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.1608+114A>C
NM_000090.3(COL3A1):c.1608+141A>G
NM_000090.3(COL3A1):c.1609-124A>G
NM_000090.3(COL3A1):c.1609-59T>C
NM_000090.3(COL3A1):c.1617C>T (p.Pro539=) rs141091206
NM_000090.3(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.3(COL3A1):c.1622G>T (p.Ser541Ile) rs794728046
NM_000090.3(COL3A1):c.1659T>A (p.Pro553=) rs41263751
NM_000090.3(COL3A1):c.1662+1G>A (p.Gly537_Pro554del) rs587779535
NM_000090.3(COL3A1):c.1673_1722del (p.Gly558fs) rs1553508231
NM_000090.3(COL3A1):c.1676A>C (p.Glu559Ala) rs794728047
NM_000090.3(COL3A1):c.1701G>A (p.Gly567=) rs765802289
NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.3(COL3A1):c.1770T>C (p.Pro590=) rs80302667
NM_000090.3(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
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.1836T>C (p.Gly612=)
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.1856C>T (p.Pro619Leu) rs373838193
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.18A>G (p.Gln6=) rs892404442
NM_000090.3(COL3A1):c.1921C>G (p.Gln641Glu) rs794728048
NM_000090.3(COL3A1):c.1923+13T>A rs1297328714
NM_000090.3(COL3A1):c.1924-102G>A
NM_000090.3(COL3A1):c.1924-175G>C
NM_000090.3(COL3A1):c.1924-184A>C
NM_000090.3(COL3A1):c.1924-8_1924-3del rs1553508529
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.1975C>A (p.Pro659Thr) rs1064796979
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.1978-1G>C rs1064796733
NM_000090.3(COL3A1):c.1988G>T (p.Gly663Val) rs587779454
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.200G>C (p.Cys67Ser) rs1085307576
NM_000090.3(COL3A1):c.2022+5T>C rs41263765
NM_000090.3(COL3A1):c.2022+6A>T rs368117488
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.203A>G (p.Asp68Gly) rs376603102
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.2123G>C (p.Gly708Ala) rs111929073
NM_000090.3(COL3A1):c.2132G>T (p.Gly711Val) rs794728049
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.2221G>T (p.Gly741Cys) rs587779685
NM_000090.3(COL3A1):c.2242G>A (p.Gly748Ser) rs771585795
NM_000090.3(COL3A1):c.2242_2244delinsAGC (p.Gly748Ser) rs794728037
NM_000090.3(COL3A1):c.2244T>C (p.Gly748=) rs1801184
NM_000090.3(COL3A1):c.2283+19G>A rs1057524170
NM_000090.3(COL3A1):c.2283+219C>T
NM_000090.3(COL3A1):c.2284-215A>G
NM_000090.3(COL3A1):c.2337+13A>C rs774786064
NM_000090.3(COL3A1):c.2337+23T>A rs2271682
NM_000090.3(COL3A1):c.2338-2A>G rs794728050
NM_000090.3(COL3A1):c.2355C>G (p.Pro785=) rs148901664
NM_000090.3(COL3A1):c.2381G>A (p.Arg794His) rs1332613006
NM_000090.3(COL3A1):c.2391+28del rs3215251
NM_000090.3(COL3A1):c.2392-232A>G
NM_000090.3(COL3A1):c.2436T>C (p.Pro812=) rs1214826179
NM_000090.3(COL3A1):c.2445+128G>A
NM_000090.3(COL3A1):c.2445+162C>T
NM_000090.3(COL3A1):c.2445+19A>G
NM_000090.3(COL3A1):c.2445+67A>G
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.2464G>A (p.Gly822Ser) rs794728051
NM_000090.3(COL3A1):c.2485G>T (p.Ala829Ser) rs755676319
NM_000090.3(COL3A1):c.2490G>A (p.Pro830=) rs777361888
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.2582G>A (p.Gly861Asp) rs1064796468
NM_000090.3(COL3A1):c.2606C>A (p.Pro869His) rs794728052
NM_000090.3(COL3A1):c.2607+10G>A rs367789349
NM_000090.3(COL3A1):c.2607T>A (p.Pro869=) rs376643618
NM_000090.3(COL3A1):c.2608-19A>C
NM_000090.3(COL3A1):c.2608-2A>C rs1057523593
NM_000090.3(COL3A1):c.2608-50C>T rs3765161
NM_000090.3(COL3A1):c.2608-79G>A
NM_000090.3(COL3A1):c.2662-92G>C
NM_000090.3(COL3A1):c.2665A>T (p.Asn889Tyr) rs761469859
NM_000090.3(COL3A1):c.2668C>T (p.Pro890Ser) rs794728053
NM_000090.3(COL3A1):c.266C>G (p.Pro89Arg) rs139610730
NM_000090.3(COL3A1):c.266C>T (p.Pro89Leu) rs139610730
NM_000090.3(COL3A1):c.2678C>G (p.Pro893Arg) rs1455100373
NM_000090.3(COL3A1):c.2689G>A (p.Gly897Ser) rs794728054
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.2723C>T (p.Ala908Val) rs144036995
NM_000090.3(COL3A1):c.2752G>A (p.Gly918Arg) rs1085307896
NM_000090.3(COL3A1):c.2791G>A (p.Glu931Lys) rs1553509193
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.282+1G>C rs1131692024
NM_000090.3(COL3A1):c.282+85A>G
NM_000090.3(COL3A1):c.2823+20T>A
NM_000090.3(COL3A1):c.2823+20dup rs1553509197
NM_000090.3(COL3A1):c.2824-25G>A
NM_000090.3(COL3A1):c.2824-5A>G rs373994011
NM_000090.3(COL3A1):c.2904G>A (p.Arg968=) rs780866547
NM_000090.3(COL3A1):c.2931+20A>G rs1553509243
NM_000090.3(COL3A1):c.2996G>T (p.Gly999Val) rs1085307964
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.3039+193T>C
NM_000090.3(COL3A1):c.3040-18T>G rs369590025
NM_000090.3(COL3A1):c.3044A>G (p.Asn1015Ser) rs1064796863
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3077G>T (p.Gly1026Val) rs1553509404
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.3202-14del rs767971610
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.3202-90A>G
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.3245G>A (p.Arg1082Gln) rs367754862
NM_000090.3(COL3A1):c.3256-18C>G rs988209116
NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG rs1553509575
NM_000090.3(COL3A1):c.3307G>C (p.Ala1103Pro) rs374548570
NM_000090.3(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422
NM_000090.3(COL3A1):c.3329G>A (p.Gly1110Glu) rs794728055
NM_000090.3(COL3A1):c.333+130C>T
NM_000090.3(COL3A1):c.334-13A>G rs375137220
NM_000090.3(COL3A1):c.334-175G>A
NM_000090.3(COL3A1):c.334-186C>T
NM_000090.3(COL3A1):c.334-4T>A rs1057522288
NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp) rs587779639
NM_000090.3(COL3A1):c.3390C>T (p.Ile1130=) rs148918486
NM_000090.3(COL3A1):c.3402A>G (p.Gly1134=)
NM_000090.3(COL3A1):c.3440C>T (p.Pro1147Leu) rs889877870
NM_000090.3(COL3A1):c.3462T>G (p.Ser1154Arg) rs769100283
NM_000090.3(COL3A1):c.3499G>A (p.Gly1167Ser) rs587779609
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.3525+23G>C
NM_000090.3(COL3A1):c.3525+3A>C rs1553509674
NM_000090.3(COL3A1):c.3544G>C (p.Gly1182Arg) rs587779683
NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
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.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.3823+276_3823+277insA
NM_000090.3(COL3A1):c.3824-14T>A rs762561768
NM_000090.3(COL3A1):c.3824-14T>G rs762561768
NM_000090.3(COL3A1):c.3859T>C (p.Leu1287=) rs770201950
NM_000090.3(COL3A1):c.3934C>T (p.Arg1312Trp) rs794728056
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.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.4038T>C (p.Pro1346=) rs113753099
NM_000090.3(COL3A1):c.4059G>T (p.Gln1353His) rs1516446
NM_000090.3(COL3A1):c.4072C>T (p.Arg1358Ter) rs794728057
NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) rs779774302
NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.3(COL3A1):c.4088G>C (p.Arg1363Pro) rs1227282800
NM_000090.3(COL3A1):c.408C>G (p.Gly136=) rs762388691
NM_000090.3(COL3A1):c.4175T>G (p.Leu1392Arg) rs1553509934
NM_000090.3(COL3A1):c.4180_4189del (p.Gly1394fs) rs794728059
NM_000090.3(COL3A1):c.4184C>T (p.Ser1395Leu) rs1131691707
NM_000090.3(COL3A1):c.4254+3A>G rs376799861
NM_000090.3(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.3(COL3A1):c.4255-224C>T
NM_000090.3(COL3A1):c.4255-266G>A
NM_000090.3(COL3A1):c.4281A>T (p.Thr1427=) rs1553510001
NM_000090.3(COL3A1):c.4357G>A (p.Asp1453Asn) rs1131691353
NM_000090.3(COL3A1):c.447+13C>T rs751726448
NM_000090.3(COL3A1):c.447+190T>C
NM_000090.3(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.528+12T>C rs1057523141
NM_000090.3(COL3A1):c.528+250T>A
NM_000090.3(COL3A1):c.528+5G>C rs794728038
NM_000090.3(COL3A1):c.529-318A>G
NM_000090.3(COL3A1):c.546C>T (p.Pro182=) rs754584062
NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.3(COL3A1):c.552C>T (p.Pro184=) rs1057521290
NM_000090.3(COL3A1):c.555del (p.Gly186fs) rs587779451
NM_000090.3(COL3A1):c.560C>T (p.Thr187Ile) rs371583734
NM_000090.3(COL3A1):c.565G>A (p.Gly189Ser) rs587779507
NM_000090.3(COL3A1):c.582+157A>G
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.586T>C (p.Ser196Pro) rs751350498
NM_000090.3(COL3A1):c.622C>T (p.Gln208Ter) rs746358771
NM_000090.3(COL3A1):c.636+126C>T
NM_000090.3(COL3A1):c.636+91A>G
NM_000090.3(COL3A1):c.637-243G>A
NM_000090.3(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
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+180T>C
NM_000090.3(COL3A1):c.690+24G>T
NM_000090.3(COL3A1):c.690+3A>G rs1447080385
NM_000090.3(COL3A1):c.691-76G>A
NM_000090.3(COL3A1):c.691-8C>G
NM_000090.3(COL3A1):c.706C>T (p.Pro236Ser) rs771858477
NM_000090.3(COL3A1):c.708C>G (p.Pro236=) rs775390389
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.3(COL3A1):c.745-37_745-20del rs1064794407
NM_000090.3(COL3A1):c.745-7T>C rs776306752
NM_000090.3(COL3A1):c.782G>A (p.Gly261Asp) rs587779635
NM_000090.3(COL3A1):c.79+204T>C
NM_000090.3(COL3A1):c.798_799delAG
NM_000090.3(COL3A1):c.799-303C>G
NM_000090.3(COL3A1):c.799-56T>A
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.80-21G>A
NM_000090.3(COL3A1):c.80-4del rs1064795869
NM_000090.3(COL3A1):c.80-69A>G
NM_000090.3(COL3A1):c.811C>T (p.Arg271Ter) rs1057521106
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.842C>A (p.Pro281His) rs794728039
NM_000090.3(COL3A1):c.853-127A>G
NM_000090.3(COL3A1):c.873C>T (p.Gly291=) rs138569287
NM_000090.3(COL3A1):c.877A>G (p.Asn293Asp) rs1131691328
NM_000090.3(COL3A1):c.897+1G>A rs1057518372
NM_000090.3(COL3A1):c.898-14A>G rs763316592
NM_000090.3(COL3A1):c.951+177C>T
NM_000090.3(COL3A1):c.951+223C>T
NM_000090.3(COL3A1):c.952-18G>A
NM_000090.3(COL3A1):c.952-218A>T
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp) rs587779588
NM_000090.3(COL3A1):c.976C>T (p.Arg326Ter) rs587779607
NM_000090.3(COL3A1):c.996+10T>A rs369957068
NM_000090.3(COL3A1):c.996+213C>T
NM_000090.3(COL3A1):c.997-1G>C (p.Gly333_Lys350del+) rs587779687
NM_000090.3(COL3A1):c.997-277A>G

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