ClinVar Miner

List of variants in gene COL3A1 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.333+130C>T rs72912628 0.02374
NM_000090.4(COL3A1):c.951+177C>T rs72912645 0.02373
NM_000090.4(COL3A1):c.691-76G>A rs41272817 0.02371
NM_000090.4(COL3A1):c.997-277A>G rs3134655 0.02254
NM_000090.4(COL3A1):c.1509+83C>T rs41272839 0.02059
NM_000090.4(COL3A1):c.3039+193T>C rs28763879 0.01994
NM_000090.4(COL3A1):c.4255-224C>T rs74476343 0.01451
NM_000090.3(COL3A1):c.-416A>G rs13306264 0.01383
NM_000090.4(COL3A1):c.690+180T>C rs41272811 0.01159
NM_000090.4(COL3A1):c.636+91A>G rs56094115 0.01155
NM_000090.4(COL3A1):c.1609-124A>G rs41263747 0.01153
NM_000090.4(COL3A1):c.1924-175G>C rs73981463 0.01152
NM_000090.4(COL3A1):c.996+213C>T rs41272831 0.01142
NM_000090.4(COL3A1):c.2284-215A>G rs187565353 0.01075
NM_000090.4(COL3A1):c.582+157A>G rs41272803 0.01068
NM_000090.4(COL3A1):c.334-175G>A rs41272795 0.01043
NM_000090.4(COL3A1):c.80-21G>A rs28763874 0.00954
NM_000090.4(COL3A1):c.334-186C>T rs80263080 0.00937
NM_000090.4(COL3A1):c.80-69A>G rs59459440 0.00924
NM_000090.4(COL3A1):c.691-286A>G rs13414033 0.00712
NM_000090.4(COL3A1):c.690+284C>A rs13388534 0.00672
NM_000090.4(COL3A1):c.80-131T>C rs145536351 0.00647
NM_000090.4(COL3A1):c.2607+35C>A rs115882631 0.00611
NM_000090.4(COL3A1):c.997-238C>T rs76879012 0.00605
NM_000090.4(COL3A1):c.2284-140A>G rs13386587 0.00595
NM_000090.4(COL3A1):c.529-318A>G rs546892229 0.00577
NM_000090.4(COL3A1):c.1149+28G>A rs13402856 0.00575
NM_000090.4(COL3A1):c.636+126C>T rs41272809 0.00565
NM_000090.4(COL3A1):c.690+256A>G rs41272813 0.00553
NM_000090.4(COL3A1):c.3363+30C>T rs41265545 0.00525
NM_000090.4(COL3A1):c.952-218A>T rs149897616 0.00497
NM_000090.4(COL3A1):c.-80G>A rs41265575 0.00470
NM_000090.4(COL3A1):c.1663-59A>G rs185022883 0.00461
NM_000090.4(COL3A1):c.996+23T>C rs41272829 0.00453
NM_000090.4(COL3A1):c.2022+227G>A rs41263769 0.00452
NM_000090.4(COL3A1):c.2023-175C>A rs41263771 0.00449
NM_000090.4(COL3A1):c.2284-293A>G rs76366008 0.00447
NM_000090.4(COL3A1):c.1977+166T>C rs41263759 0.00445
NM_000090.4(COL3A1):c.1978-124T>C rs41263763 0.00440
NM_000090.4(COL3A1):c.1195-32C>T rs41272835 0.00437
NM_000090.4(COL3A1):c.1923+174T>C rs182337347 0.00423
NM_000090.4(COL3A1):c.951+23C>T rs13395712 0.00330
NM_000090.4(COL3A1):c.1293+22C>T rs182159384 0.00260
NM_000090.4(COL3A1):c.745-47G>C rs41272821 0.00248
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000090.4(COL3A1):c.130G>A (p.Val44Ile) rs79632685 0.00162
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775 0.00146
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_000090.4(COL3A1):c.2824-25G>A rs144780447 0.00061
NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=) rs149790711 0.00053
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=) rs779774302 0.00017
NM_000090.4(COL3A1):c.1617C>T (p.Pro539=) rs141091206 0.00016
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=) rs112164939 0.00016
NM_000090.4(COL3A1):c.3040-18T>G rs369590025 0.00014
NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr) rs201220788 0.00013
NM_000090.4(COL3A1):c.1854A>T (p.Gly618=) rs370034518 0.00012
NM_000090.4(COL3A1):c.120G>A (p.Ala40=) rs138115610 0.00010
NM_000090.4(COL3A1):c.2712C>T (p.Pro904=) rs375673185 0.00010
NM_000090.4(COL3A1):c.1701G>A (p.Gly567=) rs765802289 0.00009
NM_000090.4(COL3A1):c.1977+10G>A rs768976215 0.00008
NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser) rs771585795 0.00008
NM_000090.4(COL3A1):c.3630T>G (p.Gly1210=) rs771034601 0.00008
NM_000090.4(COL3A1):c.1995C>T (p.Ala665=) rs149093989 0.00006
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440 0.00006
NM_000090.4(COL3A1):c.3228C>T (p.Pro1076=) rs200917999 0.00006
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=) rs148918486 0.00006
NM_000090.4(COL3A1):c.3418-12A>G rs373367218 0.00006
NM_000090.4(COL3A1):c.546C>T (p.Pro182=) rs754584062 0.00006
NM_000090.4(COL3A1):c.1150-20T>C rs377676752 0.00005
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) rs745743884 0.00005
NM_000090.4(COL3A1):c.1348-13T>C rs753505868 0.00004
NM_000090.4(COL3A1):c.2802G>A (p.Ser934=) rs113870310 0.00004
NM_000090.4(COL3A1):c.3202-17G>A rs769789431 0.00004
NM_000090.4(COL3A1):c.1816-4T>C rs765128089 0.00003
NM_000090.4(COL3A1):c.2022+6A>T rs368117488 0.00003
NM_000090.4(COL3A1):c.2446-10T>C rs1060500195 0.00003
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=) rs794727586 0.00003
NM_000090.4(COL3A1):c.2608-19A>C rs372917900 0.00003
NM_000090.4(COL3A1):c.2709G>A (p.Gly903=) rs1057524521 0.00003
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=) rs369992399 0.00003
NM_000090.4(COL3A1):c.334-13A>G rs375137220 0.00003
NM_000090.4(COL3A1):c.447+13C>T rs751726448 0.00003
NM_000090.4(COL3A1):c.853-7T>C rs377063305 0.00003
NM_000090.4(COL3A1):c.1234G>T (p.Ala412Ser) rs768314657 0.00002
NM_000090.4(COL3A1):c.2109C>T (p.Pro703=) rs746947080 0.00002
NM_000090.4(COL3A1):c.2823+20T>A rs577105300 0.00002
NM_000090.4(COL3A1):c.3776C>T (p.Ala1259Val) rs148387626 0.00002
NM_000090.4(COL3A1):c.4038T>C (p.Pro1346=) rs113753099 0.00002
NM_000090.4(COL3A1):c.691-8C>G rs749433733 0.00002
NM_000090.4(COL3A1):c.1431G>A (p.Gly477=) rs368765585 0.00001
NM_000090.4(COL3A1):c.1524G>A (p.Glu508=) rs761742677 0.00001
NM_000090.4(COL3A1):c.1815+4C>T rs757154607 0.00001
NM_000090.4(COL3A1):c.1816-6T>G rs1474453319 0.00001
NM_000090.4(COL3A1):c.18A>G (p.Gln6=) rs892404442 0.00001
NM_000090.4(COL3A1):c.1923+13T>A rs1297328714 0.00001
NM_000090.4(COL3A1):c.1977+8dup rs1553508546 0.00001
NM_000090.4(COL3A1):c.2043T>C (p.Gly681=) rs768133491 0.00001
NM_000090.4(COL3A1):c.204C>T (p.Asp68=) rs368299739 0.00001
NM_000090.4(COL3A1):c.2121+10C>T rs763630559 0.00001
NM_000090.4(COL3A1):c.2607+10G>A rs367789349 0.00001
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=) rs376643618 0.00001
NM_000090.4(COL3A1):c.2904G>A (p.Arg968=) rs780866547 0.00001
NM_000090.4(COL3A1):c.3040-12T>C rs757034411 0.00001
NM_000090.4(COL3A1):c.3093+16G>A rs369029683 0.00001
NM_000090.4(COL3A1):c.3364-8C>T rs779073034 0.00001
NM_000090.4(COL3A1):c.3526-10C>T rs376171095 0.00001
NM_000090.4(COL3A1):c.3693C>A (p.Thr1231=) rs368556405 0.00001
NM_000090.4(COL3A1):c.3859T>C (p.Leu1287=) rs770201950 0.00001
NM_000090.4(COL3A1):c.3963T>C (p.Ala1321=) rs1057523548 0.00001
NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029 0.00001
NM_000090.4(COL3A1):c.531C>A (p.Gly177=) rs41272797 0.00001
NM_000090.4(COL3A1):c.637-11C>T rs1296459019 0.00001
NM_000090.4(COL3A1):c.690+3A>G rs1447080385 0.00001
NM_000090.4(COL3A1):c.745-7T>C rs776306752 0.00001
NM_000090.4(COL3A1):c.792A>G (p.Gly264=) rs113304344 0.00001
NM_000090.4(COL3A1):c.80-13A>C rs566189676 0.00001
NM_000090.4(COL3A1):c.898-14A>G rs763316592 0.00001
NM_000090.4(COL3A1):c.952-18G>A rs996947690 0.00001
NM_000090.3(COL3A1):c.2242_2244delinsAGC (p.Gly748Ser) rs794728037
NM_000090.4(COL3A1):c.*7C>T rs1057523029
NM_000090.4(COL3A1):c.1149+15T>C rs1553507809
NM_000090.4(COL3A1):c.123T>C (p.Asp41=) rs770961095
NM_000090.4(COL3A1):c.1461C>T (p.Ala487=) rs747522483
NM_000090.4(COL3A1):c.1509+10T>C rs1576465669
NM_000090.4(COL3A1):c.1509+5A>G rs572863064
NM_000090.4(COL3A1):c.1662+106_1663-95del rs1414537965
NM_000090.4(COL3A1):c.1662+72GT[12] rs112143266
NM_000090.4(COL3A1):c.1663-108_1663-101del rs1323462348
NM_000090.4(COL3A1):c.1663-92AC[13] rs141685938
NM_000090.4(COL3A1):c.1762-150ATATATATATGAGAC[7] rs66853741
NM_000090.4(COL3A1):c.1836T>C (p.Gly612=) rs1576467117
NM_000090.4(COL3A1):c.1870-12A>G rs1231508385
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.4(COL3A1):c.2283+19G>A rs1057524170
NM_000090.4(COL3A1):c.2337+13A>C rs774786064
NM_000090.4(COL3A1):c.2446-235C>T rs41263779
NM_000090.4(COL3A1):c.2490G>C (p.Pro830=) rs777361888
NM_000090.4(COL3A1):c.2823+20dup rs1553509197
NM_000090.4(COL3A1):c.2824-5A>G rs373994011
NM_000090.4(COL3A1):c.283-7T>G
NM_000090.4(COL3A1):c.2931+20A>G rs1553509243
NM_000090.4(COL3A1):c.3009G>T (p.Leu1003=) rs762167409
NM_000090.4(COL3A1):c.3201+8C>A rs765137525
NM_000090.4(COL3A1):c.3201+9C>G rs1057523125
NM_000090.4(COL3A1):c.3249T>G (p.Gly1083=) rs2153503795
NM_000090.4(COL3A1):c.3255+107AT[21] rs36195651
NM_000090.4(COL3A1):c.3255+107AT[23] rs36195651
NM_000090.4(COL3A1):c.3255+172GATA[13] rs60243485
NM_000090.4(COL3A1):c.3255+172GATA[8] rs60243485
NM_000090.4(COL3A1):c.3256-18C>G rs988209116
NM_000090.4(COL3A1):c.334-4T>A rs1057522288
NM_000090.4(COL3A1):c.3390C>A (p.Ile1130=) rs148918486
NM_000090.4(COL3A1):c.3402A>G (p.Gly1134=) rs1299281646
NM_000090.4(COL3A1):c.3505A>C (p.Arg1169=) rs546664098
NM_000090.4(COL3A1):c.3525+17A>G rs1553509677
NM_000090.4(COL3A1):c.3525+203_3525+204del rs570188300
NM_000090.4(COL3A1):c.3654G>A (p.Pro1218=) rs35759441
NM_000090.4(COL3A1):c.3824-14T>A rs762561768
NM_000090.4(COL3A1):c.3984T>C (p.Phe1328=) rs749456336
NM_000090.4(COL3A1):c.408C>G (p.Gly136=) rs762388691
NM_000090.4(COL3A1):c.4155T>C (p.Asn1385=) rs2153504334
NM_000090.4(COL3A1):c.4281A>T (p.Thr1427=) rs1553510001
NM_000090.4(COL3A1):c.528+12T>C rs1057523141
NM_000090.4(COL3A1):c.552C>T (p.Pro184=) rs1057521290
NM_000090.4(COL3A1):c.690+97del rs996833144
NM_000090.4(COL3A1):c.708C>G (p.Pro236=) rs775390389
NM_000090.4(COL3A1):c.745-37_745-20del rs1064794407
NM_000090.4(COL3A1):c.80-152_80-130dup rs550362990
NM_000090.4(COL3A1):c.80-4del rs1064795869
NM_000090.4(COL3A1):c.996+10T>A rs369957068

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