ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as uncertain significance for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 210
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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_*1070del rs11297279
NM_000091.4(COL4A3):c.*1069_*1070dup rs11297279
NM_000091.4(COL4A3):c.*1070del rs11297279
NM_000091.4(COL4A3):c.*1070dup rs11297279
NM_000091.4(COL4A3):c.*1071G>A rs866036167
NM_000091.4(COL4A3):c.*1645del 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.*2180C>T rs886055749
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.1022G>A (p.Arg341His) rs200738124
NM_000091.4(COL4A3):c.112C>G (p.Gln38Glu) rs201607115
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.1354G>A (p.Gly452Arg) rs772958162
NM_000091.4(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854
NM_000091.4(COL4A3):c.136G>A (p.Gly46Arg) rs200866082
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.1892G>T (p.Gly631Val) rs1315862965
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) rs773674552
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.2489-8G>A rs201846272
NM_000091.4(COL4A3):c.250C>A (p.Pro84Thr) rs572059687
NM_000091.4(COL4A3):c.2610G>A (p.Leu870=) rs886039889
NM_000091.4(COL4A3):c.2747-11C>A rs886055739
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.2881+6G>T rs886055740
NM_000091.4(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.4(COL4A3):c.3189_3197dup (p.1064_1066PGP[3]) 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.3270A>C (p.Pro1090=) rs201989155
NM_000091.4(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283
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) rs200107989
NM_000091.4(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176
NM_000091.4(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.3662_3664del (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=) rs143380907
NM_000091.4(COL4A3):c.386A>C (p.Lys129Thr) rs886055737
NM_000091.4(COL4A3):c.3882+10G>A rs78980950
NM_000091.4(COL4A3):c.3882+5G>A rs1553764454
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.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_4328del (p.Thr1443del) rs941454321
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.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.4615_4617dup (p.Arg1539dup) rs773268719
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.4793T>G (p.Leu1598Arg) rs752452590
NM_000091.4(COL4A3):c.4798_4800del (p.Ser1600del) rs775551399
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.Ser1660fs) rs1553766929
NM_000091.4(COL4A3):c.4977_4979dup (p.Ser1660_Arg1661insArg) rs1553766932
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000091.4(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) 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.765G>A (p.Thr255=) rs869025328
NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg) rs772708743
NM_000091.5(COL4A3):c.*1238T>C
NM_000091.5(COL4A3):c.*1322T>A
NM_000091.5(COL4A3):c.*1340T>C
NM_000091.5(COL4A3):c.*1612A>G
NM_000091.5(COL4A3):c.*1634G>C
NM_000091.5(COL4A3):c.*1639G>A
NM_000091.5(COL4A3):c.*2087A>T
NM_000091.5(COL4A3):c.*2266A>G
NM_000091.5(COL4A3):c.*2565T>C
NM_000091.5(COL4A3):c.*261A>T
NM_000091.5(COL4A3):c.*2795T>C
NM_000091.5(COL4A3):c.*2836A>G
NM_000091.5(COL4A3):c.*2853A>C
NM_000091.5(COL4A3):c.*287G>A
NM_000091.5(COL4A3):c.*387A>C
NM_000091.5(COL4A3):c.*454G>T
NM_000091.5(COL4A3):c.*459T>C
NM_000091.5(COL4A3):c.*501T>C
NM_000091.5(COL4A3):c.*656T>A
NM_000091.5(COL4A3):c.*969G>A
NM_000091.5(COL4A3):c.1031C>T (p.Thr344Ile)
NM_000091.5(COL4A3):c.1084C>T (p.Pro362Ser)
NM_000091.5(COL4A3):c.1150+4T>A
NM_000091.5(COL4A3):c.1153TCA[1] (p.Ser386del) rs1553755078
NM_000091.5(COL4A3):c.1167C>G (p.Gly389=)
NM_000091.5(COL4A3):c.1238C>A (p.Ala413Asp)
NM_000091.5(COL4A3):c.1304C>T (p.Pro435Leu)
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu) rs148686474
NM_000091.5(COL4A3):c.1505-12G>A
NM_000091.5(COL4A3):c.1508G>A (p.Arg503Lys)
NM_000091.5(COL4A3):c.1576-6C>T
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val)
NM_000091.5(COL4A3):c.1727T>C (p.Val576Ala)
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu) rs781163705
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu)
NM_000091.5(COL4A3):c.1849G>A (p.Gly617Ser)
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=) rs771390525
NM_000091.5(COL4A3):c.1886C>T rs139361545
NM_000091.5(COL4A3):c.1912C>T (p.Pro638Ser)
NM_000091.5(COL4A3):c.1929C>A (p.Gly643=) rs1574764067
NM_000091.5(COL4A3):c.1987C>T (p.Pro663Ser)
NM_000091.5(COL4A3):c.2125+13T>C
NM_000091.5(COL4A3):c.2127A>C (p.Gly709=) rs1238746236
NM_000091.5(COL4A3):c.2196T>C (p.Pro732=) rs1251724413
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu) rs368342782
NM_000091.5(COL4A3):c.2656+12T>A
NM_000091.5(COL4A3):c.2747-4T>C rs772016854
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu) rs200873401
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=)
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His)
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp) rs202078295
NM_000091.5(COL4A3):c.3211-13G>A
NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg)
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.5(COL4A3):c.3302G>A (p.Gly1101Glu)
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549
NM_000091.5(COL4A3):c.3518-15G>C
NM_000091.5(COL4A3):c.3565+9T>G rs750406964
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942
NM_000091.5(COL4A3):c.365T>C (p.Val122Ala) rs766935732
NM_000091.5(COL4A3):c.3735C>G (p.Gly1245=)
NM_000091.5(COL4A3):c.3751+7G>A rs750554079
NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His)
NM_000091.5(COL4A3):c.3829G>A rs190598500
NM_000091.5(COL4A3):c.3857G>T (p.Gly1286Val)
NM_000091.5(COL4A3):c.388-15T>C
NM_000091.5(COL4A3):c.3956-8_3956-5del rs779522146
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg)
NM_000091.5(COL4A3):c.4027+11G>T
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=) rs374672854
NM_000091.5(COL4A3):c.4301A>G (p.Asp1434Gly)
NM_000091.5(COL4A3):c.4450G>A (p.Gly1484Arg)
NM_000091.5(COL4A3):c.4462G>C (p.Gly1488Arg)
NM_000091.5(COL4A3):c.4501C>A (p.Pro1501Thr)
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=)
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)
NM_000091.5(COL4A3):c.468+9T>C rs754471166
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712
NM_000091.5(COL4A3):c.4712C>T (p.Pro1571Leu)
NM_000091.5(COL4A3):c.4720T>C (p.Trp1574Arg)
NM_000091.5(COL4A3):c.4765G>A (p.Ala1589Thr)
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe)
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)
NM_000091.5(COL4A3):c.504T>C (p.Asp168=) rs748974369
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn) rs377575924
NM_000091.5(COL4A3):c.573T>C (p.Pro191=) rs375503109
NM_000091.5(COL4A3):c.580G>A (p.Val194Ile)
NM_000091.5(COL4A3):c.610-11G>A
NM_000091.5(COL4A3):c.668T>C (p.Ile223Thr)
NM_000091.5(COL4A3):c.706G>A (p.Gly236Arg)
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782
NM_000091.5(COL4A3):c.717A>G (p.Gly239=)
NM_000091.5(COL4A3):c.828+9T>C
NM_000091.5(COL4A3):c.829-15C>T
NM_000091.5(COL4A3):c.865G>A (p.Ala289Thr)
NM_000091.5(COL4A3):c.870T>C (p.Pro290=)
NM_000091.5(COL4A3):c.922C>T (p.Pro308Ser)
NM_000091.5(COL4A3):c.934-6C>A rs369438839
NM_000091.5(COL4A3):c.964T>C (p.Leu322=)

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