ClinVar Miner

List of variants in gene combination COL4A3, LOC654841 reported as uncertain significance

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Total variants: 126
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HGVS dbSNP
NM_000091.4(COL4A3):c.*1000C>T rs770149608
NM_000091.4(COL4A3):c.*1032G>A rs886055744
NM_000091.4(COL4A3):c.*1069_*1070delAA rs11297279
NM_000091.4(COL4A3):c.*1069_*1070dupAA rs11297279
NM_000091.4(COL4A3):c.*1070delA rs11297279
NM_000091.4(COL4A3):c.*1070dupA rs11297279
NM_000091.4(COL4A3):c.*1071G>A rs866036167
NM_000091.4(COL4A3):c.*1645delG rs886055747
NM_000091.4(COL4A3):c.*1739C>T rs750139996
NM_000091.4(COL4A3):c.*1764A>G rs577379452
NM_000091.4(COL4A3):c.*1918T>C rs767668198
NM_000091.4(COL4A3):c.*2048C>G rs886055748
NM_000091.4(COL4A3):c.*2145A>C rs115394347
NM_000091.4(COL4A3):c.*2180C>T rs886055749
NM_000091.4(COL4A3):c.*2182C>T rs114535536
NM_000091.4(COL4A3):c.*2228T>C rs367785196
NM_000091.4(COL4A3):c.*2272T>C rs886055750
NM_000091.4(COL4A3):c.*2308T>C rs886055751
NM_000091.4(COL4A3):c.*406G>A rs759265728
NM_000091.4(COL4A3):c.*647T>G rs183552783
NM_000091.4(COL4A3):c.*660T>C rs557009121
NM_000091.4(COL4A3):c.*811A>C rs116568659
NM_000091.4(COL4A3):c.1022G>A (p.Arg341His)
NM_000091.4(COL4A3):c.1127C>T (p.Pro376Leu) rs760049264
NM_000091.4(COL4A3):c.112C>G (p.Gln38Glu) rs201607115
NM_000091.4(COL4A3):c.1156_1158delTCA (p.Ser386del) rs1553755078
NM_000091.4(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986
NM_000091.4(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913
NM_000091.4(COL4A3):c.1309C>T (p.Pro437Ser) rs763403545
NM_000091.4(COL4A3):c.1350_1352delTCAinsACG (p.Asp450_His451delinsGluArg)
NM_000091.4(COL4A3):c.1367_1369delATC (p.Tyr456del) rs762420854
NM_000091.4(COL4A3):c.1423C>G (p.Leu475Val) rs886055738
NM_000091.4(COL4A3):c.1459G>T (p.Gly487Cys) rs745472969
NM_000091.4(COL4A3):c.145G>A (p.Gly49Arg) rs1553749403
NM_000091.4(COL4A3):c.1483C>T (p.His495Tyr) rs200510532
NM_000091.4(COL4A3):c.1516G>A (p.Ala506Thr) rs188967260
NM_000091.4(COL4A3):c.1687G>A (p.Gly563Arg) rs1553757060
NM_000091.4(COL4A3):c.172G>A (p.Gly58Ser) rs184730597
NM_000091.4(COL4A3):c.1886C>T (p.Thr629Met) rs139361545
NM_000091.4(COL4A3):c.1892G>T (p.Gly631Val)
NM_000091.4(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437
NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.4(COL4A3):c.1928-4T>C rs376327706
NM_000091.4(COL4A3):c.1978C>A (p.Pro660Thr)
NM_000091.4(COL4A3):c.2020+18A>C
NM_000091.4(COL4A3):c.2021-9G>C rs773021303
NM_000091.4(COL4A3):c.2115T>A (p.Pro705=) rs201419174
NM_000091.4(COL4A3):c.221C>T (p.Pro74Leu) rs373975901
NM_000091.4(COL4A3):c.2374+9dup rs1553759691
NM_000091.4(COL4A3):c.2381C>T (p.Pro794Leu)
NM_000091.4(COL4A3):c.2489-8G>A rs201846272
NM_000091.4(COL4A3):c.250C>A (p.Pro84Thr)
NM_000091.4(COL4A3):c.2610G>A (p.Leu870=) rs886039889
NM_000091.4(COL4A3):c.2657-1G>T rs373324875
NM_000091.4(COL4A3):c.2699T>C (p.Ile900Thr) rs201665434
NM_000091.4(COL4A3):c.2746+17C>T rs765408537
NM_000091.4(COL4A3):c.2747-11C>A rs886055739
NM_000091.4(COL4A3):c.2750G>A (p.Ser917Asn) rs773119622
NM_000091.4(COL4A3):c.2765G>T (p.Gly922Val) rs920413118
NM_000091.4(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530
NM_000091.4(COL4A3):c.2848G>A (p.Val950Ile)
NM_000091.4(COL4A3):c.2881+6G>T rs886055740
NM_000091.4(COL4A3):c.2954G>T (p.Gly985Val) rs121912827
NM_000091.4(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.4(COL4A3):c.3189_3197dup (p.Pro1069_Thr1070insProGlyPro) rs1553762295
NM_000091.4(COL4A3):c.3196C>T (p.Pro1066Ser) rs377003650
NM_000091.4(COL4A3):c.3200C>G (p.Pro1067Arg) rs55849096
NM_000091.4(COL4A3):c.3228G>A (p.Pro1076=) rs200125890
NM_000091.4(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.4(COL4A3):c.3270A>C (p.Pro1090=) rs201989155
NM_000091.4(COL4A3):c.3416C>T (p.Pro1139Leu) rs1057516186
NM_000091.4(COL4A3):c.3419-8T>G rs754483986
NM_000091.4(COL4A3):c.3440C>T (p.Ser1147Phe)
NM_000091.4(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291
NM_000091.4(COL4A3):c.3566-10T>C rs114719458
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.3662_3664delAAG (p.Glu1221del) rs756342074
NM_000091.4(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401
NM_000091.4(COL4A3):c.3790A>G (p.Ile1264Val) rs1553764410
NM_000091.4(COL4A3):c.3825C>T (p.His1275=)
NM_000091.4(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500
NM_000091.4(COL4A3):c.386A>C (p.Lys129Thr) rs886055737
NM_000091.4(COL4A3):c.3882+10G>A rs78980950
NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) rs141552752
NM_000091.4(COL4A3):c.3945A>G (p.Pro1315=) rs189574905
NM_000091.4(COL4A3):c.3956-8_3956-5delGTTT rs779522146
NM_000091.4(COL4A3):c.4100G>C (p.Gly1367Ala) rs886055742
NM_000091.4(COL4A3):c.4153+10T>C rs865866667
NM_000091.4(COL4A3):c.4253-14T>C rs747386514
NM_000091.4(COL4A3):c.4295G>A (p.Arg1432His) rs200509072
NM_000091.4(COL4A3):c.4326_4328delAAC (p.Thr1443del) rs941454321
NM_000091.4(COL4A3):c.4351C>G (p.His1451Asp)
NM_000091.4(COL4A3):c.441G>A (p.Pro147=) rs373559251
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.443G>T (p.Gly148Val) rs775373641
NM_000091.4(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408
NM_000091.4(COL4A3):c.4482G>A (p.Leu1494=) rs181952966
NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=) rs200454769
NM_000091.4(COL4A3):c.4501C>T (p.Pro1501Ser)
NM_000091.4(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.4(COL4A3):c.4504T>C (p.Phe1502Leu) rs1553766367
NM_000091.4(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013
NM_000091.4(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461
NM_000091.4(COL4A3):c.4552G>C (p.Asp1518His)
NM_000091.4(COL4A3):c.4615_4617dup (p.Arg1539_Ala1540insArg) rs773268719
NM_000091.4(COL4A3):c.4649T>G (p.Val1550Gly)
NM_000091.4(COL4A3):c.4691C>T (p.Thr1564Ile) rs886055743
NM_000091.4(COL4A3):c.469G>C (p.Gly157Arg) rs764451365
NM_000091.4(COL4A3):c.4756-13A>T rs190701197
NM_000091.4(COL4A3):c.4798_4800delTCC (p.Ser1600del) rs775551399
NM_000091.4(COL4A3):c.4812C>G (p.Cys1604Trp) rs1064796314
NM_000091.4(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.4(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.4976dup (p.Ser1660Lysfs) rs1553766929
NM_000091.4(COL4A3):c.4977_4979dup (p.Ile1659_Ser1660insArg) rs1553766932
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.4985G>A (p.Cys1662Tyr)
NM_000091.4(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000091.4(COL4A3):c.5010_*14del18 rs765655100
NM_000091.4(COL4A3):c.516C>T (p.Asp172=) rs759455097
NM_000091.4(COL4A3):c.686G>T (p.Arg229Leu) rs188942711
NM_000091.4(COL4A3):c.688-8G>T rs748843785
NM_000091.4(COL4A3):c.756T>A (p.Asp252Glu) rs1412919917
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000091.4(COL4A3):c.881G>A (p.Gly294Asp) rs1553753137

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