ClinVar Miner

List of variants in gene COL4A1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.4928+154G>A rs75273185 0.02543
NM_001845.6(COL4A1):c.4756-113G>T rs79439755 0.02303
NM_001845.6(COL4A1):c.4151-199T>A rs113777564 0.01593
NM_001845.6(COL4A1):c.3506-180T>C rs75079832 0.01542
NM_001845.6(COL4A1):c.4641-191C>T rs7998488 0.01355
NM_001845.6(COL4A1):c.2459-209G>A rs149605687 0.01274
NM_001845.6(COL4A1):c.999+145C>T rs16975589 0.01184
NM_001845.6(COL4A1):c.4929-300T>C rs76762033 0.01127
NM_001845.6(COL4A1):c.4928+205A>G rs1808996 0.01099
NM_001845.6(COL4A1):c.279+20A>T rs79359215 0.01095
NM_001845.6(COL4A1):c.2459-34T>C rs138277123 0.01057
NM_001845.6(COL4A1):c.468+115A>G rs141177872 0.00943
NM_001845.6(COL4A1):c.442-88A>G rs115723247 0.00894
NM_001845.6(COL4A1):c.781-129G>A rs114159891 0.00884
NM_001845.6(COL4A1):c.1285+43C>T rs143781394 0.00868
NM_001845.6(COL4A1):c.1285+54C>T rs148032432 0.00865
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) rs140722653 0.00856
NM_001845.6(COL4A1):c.145-203C>T rs143497916 0.00840
NM_001845.6(COL4A1):c.858+94G>A rs147824841 0.00757
NM_001845.6(COL4A1):c.3505+187G>T rs148558362 0.00730
NM_001845.6(COL4A1):c.145-145G>A rs139545645 0.00672
NM_001845.6(COL4A1):c.4755+153C>G rs142556085 0.00617
NM_001845.6(COL4A1):c.1084+48C>G rs141469904 0.00546
NM_001845.6(COL4A1):c.1729-91A>T rs116821113 0.00538
NM_001845.6(COL4A1):c.999+276A>G rs192866980 0.00529
NM_001845.6(COL4A1):c.4203C>T (p.Asp1401=) rs141714960 0.00519
NM_001845.6(COL4A1):c.3949+10C>T rs188122235 0.00488
NM_001845.6(COL4A1):c.1701G>A (p.Pro567=) rs146480068 0.00458
NM_001845.6(COL4A1):c.693+125A>T rs138970497 0.00409
NM_001845.6(COL4A1):c.859-22C>T rs114434129 0.00404
NM_001845.6(COL4A1):c.279+103A>G rs552453147 0.00389
NM_001845.6(COL4A1):c.4756-184G>T rs552170022 0.00386
NM_001845.6(COL4A1):c.694-197T>G rs9583466 0.00386
NM_001845.6(COL4A1):c.469-223G>A rs186765111 0.00367
NM_001845.6(COL4A1):c.4756-59T>A rs145955010 0.00364
NM_001845.6(COL4A1):c.3407-172T>C rs114503052 0.00360
NM_001845.6(COL4A1):c.911C>T (p.Pro304Leu) rs34843786 0.00357
NM_001845.6(COL4A1):c.1537-294C>T rs139989910 0.00324
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) rs115834242 0.00215
NM_001845.6(COL4A1):c.1000-5T>G rs75711155 0.00155
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_001845.6(COL4A1):c.1898-46G>A rs41275094 0.00141
NM_001845.6(COL4A1):c.904-9C>T rs201481886 0.00116
NM_001845.6(COL4A1):c.3506-7C>G rs377592935 0.00105
NM_001845.6(COL4A1):c.651+4_651+5insCAC rs760194800 0.00087
NM_001845.6(COL4A1):c.2502T>G (p.Pro834=) rs147764548 0.00083
NM_001845.6(COL4A1):c.616-31T>C rs77622402 0.00072
NM_001845.6(COL4A1):c.690C>T (p.Asp230=) rs149688210 0.00049
NM_001845.6(COL4A1):c.3557-3C>T rs185281604 0.00045
NM_001845.6(COL4A1):c.633C>T (p.Pro211=) rs144773264 0.00041
NM_001845.6(COL4A1):c.401C>T (p.Pro134Leu) rs140517831 0.00037
NM_001845.6(COL4A1):c.1437C>T (p.Pro479=) rs151186561 0.00031
NM_001845.6(COL4A1):c.3949+6A>G rs374341500 0.00030
NM_001845.6(COL4A1):c.780+29del rs376694563 0.00030
NM_001845.6(COL4A1):c.553-8C>T rs199534388 0.00022
NM_001845.6(COL4A1):c.781-12G>A rs202198648 0.00022
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu) rs377122126 0.00020
NM_001845.6(COL4A1):c.4756-22_4756-5dup rs778511113 0.00017
NM_001845.6(COL4A1):c.958-4del rs773018457 0.00017
NM_001845.6(COL4A1):c.1725G>A (p.Ser575=) rs370332353 0.00016
NM_001845.6(COL4A1):c.2316C>T (p.Ile772=) rs377593990 0.00011
NM_001845.6(COL4A1):c.280-12C>T rs200121908 0.00010
NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg) rs752346924 0.00004
NM_001845.6(COL4A1):c.4640+3G>T rs770167198 0.00004
NM_001845.6(COL4A1):c.762C>T (p.Phe254=) rs145029443 0.00004
NM_001845.6(COL4A1):c.694-5G>A rs762644478 0.00002
NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val) rs200252122 0.00001
NM_001845.6(COL4A1):c.3505+4del rs749942977 0.00001
NM_001845.6(COL4A1):c.4881C>T (p.Asn1627=) rs672601348 0.00001
NM_001845.6(COL4A1):c.1084+137G>T rs116447150
NM_001845.6(COL4A1):c.1085-12_1085-9del rs762898342
NM_001845.6(COL4A1):c.1121-210T>C rs7318502
NM_001845.6(COL4A1):c.144+291C>T rs546726924
NM_001845.6(COL4A1):c.1551A>G (p.Thr517=) rs1431558455
NM_001845.6(COL4A1):c.2095+98C>T rs117494404
NM_001845.6(COL4A1):c.2096-27dup rs112508409
NM_001845.6(COL4A1):c.2627-4dup rs1555303159
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001845.6(COL4A1):c.2811C>T (p.Ser937=) rs765239658
NM_001845.6(COL4A1):c.2968+4C>T rs1555303033
NM_001845.6(COL4A1):c.3198+28C>G rs111449216
NM_001845.6(COL4A1):c.3198+28C>T rs111449216
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.3506-233G>A rs76348017
NM_001845.6(COL4A1):c.3556+197G>C rs79228241
NM_001845.6(COL4A1):c.3876+102_3876+105del rs1444468331
NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) rs146638269
NM_001845.6(COL4A1):c.781-226G>A rs541055731
NM_001845.6(COL4A1):c.781-90dup rs60585275
NM_001845.6(COL4A1):c.808-29_808-28dup rs537338028
NM_001845.6(COL4A1):c.859-49C>T rs186146235

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