ClinVar Miner

List of variants studied for X-linked nonsyndromic hearing loss

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_033641.4(COL4A6):c.2808T>C (p.Arg936=) rs4623610 0.98777
NM_033641.4(COL4A6):c.1360T>C (p.Ser454Pro) rs1042065 0.74364
NM_033641.4(COL4A6):c.2956+39G>A rs2295914 0.64644
NM_033641.4(COL4A6):c.949-31C>G rs1266719 0.62433
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851 0.50355
NM_033641.4(COL4A6):c.3078C>T (p.Gly1026=) rs5973851 0.26004
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_033641.4(COL4A6):c.3402C>T (p.Ala1134=) rs2295912 0.05171
NM_033641.4(COL4A6):c.4812+8C>T rs73251797 0.05127
NM_033641.4(COL4A6):c.3481A>G (p.Ile1161Val) rs34466065 0.03911
NM_033641.4(COL4A6):c.3373C>T (p.Pro1125Ser) rs35179844 0.03732
NM_033641.4(COL4A6):c.3855G>A (p.Ser1285=) rs34132805 0.03145
NM_033641.4(COL4A6):c.4082T>C (p.Leu1361Pro) rs35363062 0.03050
NM_033641.4(COL4A6):c.303T>C (p.Phe101=) rs149820261 0.01271
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_033641.4(COL4A6):c.3760G>T (p.Ala1254Ser) rs145388022 0.00827
NM_033641.4(COL4A6):c.3139-4G>A rs185777707 0.00750
NM_033641.4(COL4A6):c.323C>T (p.Pro108Leu) rs139802816 0.00690
NM_033641.4(COL4A6):c.4070-17C>T rs141656095 0.00646
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_033641.4(COL4A6):c.286A>T (p.Met96Leu) rs144792752 0.00553
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_033641.4(COL4A6):c.1125A>G (p.Glu375=) rs142057815 0.00526
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) rs61730896 0.00489
NM_033641.4(COL4A6):c.2888A>T (p.Asn963Ile) rs143146797 0.00431
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_033641.4(COL4A6):c.528T>G (p.Pro176=) rs12390371 0.00296
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_033641.4(COL4A6):c.3474C>T (p.Pro1158=) rs144145420 0.00192
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) rs61730898 0.00188
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_033641.4(COL4A6):c.2409G>A (p.Gly803=) rs139372880 0.00149
NM_033641.4(COL4A6):c.3537G>A (p.Pro1179=) rs144803723 0.00149
NM_033641.4(COL4A6):c.2400C>A (p.Gly800=) rs60172559 0.00145
NM_033641.4(COL4A6):c.3192A>G (p.Pro1064=) rs149715446 0.00130
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser) rs144417952 0.00110
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_000307.5(POU3F4):c.*105C>T rs777244703 0.00107
NM_033641.4(COL4A6):c.1886G>A (p.Arg629His) rs148929548 0.00100
NM_033641.4(COL4A6):c.2039G>A (p.Arg680Gln) rs146510405 0.00091
NM_033641.4(COL4A6):c.3138+17C>T rs369016527 0.00090
NM_033641.4(COL4A6):c.432C>T (p.Leu144=) rs2295920 0.00086
NM_033641.4(COL4A6):c.1431C>T (p.Asp477=) rs139740946 0.00083
NM_033641.4(COL4A6):c.1676G>A (p.Arg559Gln) rs142508831 0.00077
NM_000307.5(POU3F4):c.*192T>C rs775863791 0.00075
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) rs80338730 0.00068
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_033641.4(COL4A6):c.4299T>A (p.Gly1433=) rs2294464 0.00063
NM_004004.6(GJB2):c.*115A>C rs557953001 0.00058
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_002764.3(PRPS1):c.-153delG rs768856537 0.00057
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_002764.4(PRPS1):c.705-11T>C rs190164271 0.00052
NM_014332.3(SMPX):c.132G>A (p.Glu44=) rs199907508 0.00052
NM_002764.4(PRPS1):c.*725T>C rs183744100 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_033641.4(COL4A6):c.1533A>G (p.Lys511=) rs139333183 0.00046
NM_002764.4(PRPS1):c.*158C>T rs777440100 0.00042
NM_002764.4(PRPS1):c.573G>A (p.Leu191=) rs770518315 0.00035
NM_014332.3(SMPX):c.*395T>G rs765339045 0.00035
NM_033641.4(COL4A6):c.3809-14G>A rs192754010 0.00032
NM_033641.4(COL4A6):c.4404G>A (p.Thr1468=) rs147362613 0.00032
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_033641.4(COL4A6):c.1922C>T (p.Pro641Leu) rs140900431 0.00020
NM_002764.4(PRPS1):c.*159G>A rs747334780 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_033641.4(COL4A6):c.4609C>T (p.Arg1537Cys) rs376450994 0.00016
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_002764.4(PRPS1):c.*166G>A rs371265973 0.00014
NM_002764.4(PRPS1):c.*88C>T rs1057515726 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_000307.5(POU3F4):c.753G>A (p.Leu251=) rs779713849 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_033641.4(COL4A6):c.835-6A>G rs189915873 0.00013
NM_000307.5(POU3F4):c.585A>G (p.Glu195=) rs202020213 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375 0.00010
NM_000307.5(POU3F4):c.*22C>G rs201213510 0.00009
NM_002764.4(PRPS1):c.*762G>T rs768310830 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004004.6(GJB2):c.-1G>A rs768338285 0.00006
NM_033641.4(COL4A6):c.672A>G (p.Gly224=) rs762112922 0.00006
NM_000307.5(POU3F4):c.24C>T (p.Pro8=) rs756362293 0.00005
NM_002764.4(PRPS1):c.*538G>T rs1057515727 0.00005
NM_002764.4(PRPS1):c.288G>A (p.Arg96=) rs752194539 0.00005
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu) rs374572413 0.00005
NM_001110219.3(GJB6):c.396G>A (p.Leu132=) rs189971962 0.00004
NM_002764.4(PRPS1):c.*423T>A rs1397267425 0.00004
NM_002764.4(PRPS1):c.*726C>T rs1012116674 0.00004
NM_002764.4(PRPS1):c.720C>T (p.Gly240=) rs746885792 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751 0.00004
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392 0.00004
NM_004004.6(GJB2):c.88A>G (p.Ile30Val) rs374625633 0.00004
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885 0.00004
NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu) rs770657036 0.00003
NM_002764.4(PRPS1):c.444G>A (p.Glu148=) rs201285459 0.00003
NM_002764.4(PRPS1):c.611G>A (p.Arg204His) rs1169615098 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.195C>T (p.Tyr65=) rs763572195 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004208.4(AIFM1):c.1113C>T (p.Ser371=) rs724160027 0.00003
NM_014332.3(SMPX):c.-103C>T rs1301418010 0.00003
NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser) rs779748859 0.00003
NM_033641.4(COL4A6):c.2013C>T (p.Pro671=) rs200299007 0.00003
NM_000307.5(POU3F4):c.*297T>C rs1297004201 0.00002
NM_000307.5(POU3F4):c.442G>C (p.Gly148Arg) rs773169987 0.00002
NM_002764.4(PRPS1):c.*178G>A rs576933222 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser) rs724160019 0.00002
NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr) rs766360534 0.00002
NM_000307.5(POU3F4):c.914C>T (p.Ala305Val) rs1354177998 0.00001
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) rs750540794 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg) rs751440971 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.474C>T (p.Tyr158=) rs375759781 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004004.6(GJB2):c.512C>T (p.Ala171Val) rs1555341850 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004208.4(AIFM1):c.1492G>A (p.Val498Met) rs724160023 0.00001
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) rs1375125488 0.00001
NM_004208.4(AIFM1):c.845C>T (p.Thr282Met) rs724160017 0.00001
NM_033641.4(COL4A6):c.114C>T (p.Ser38=) rs377506539 0.00001
NM_033641.4(COL4A6):c.1654A>T (p.Ile552Phe) rs748877857 0.00001
NM_000307.5(POU3F4):c.*141T>C rs368408951
NM_000307.5(POU3F4):c.*227CTTCC[3] rs763018226
NM_000307.5(POU3F4):c.*41C>A rs1057516008
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu) rs104894922
NM_000307.5(POU3F4):c.1060del (p.Thr354fs) rs398122517
NM_000307.5(POU3F4):c.119dup (p.Ser40fs)
NM_000307.5(POU3F4):c.170G>A (p.Trp57Ter) rs1454033665
NM_000307.5(POU3F4):c.220del (p.Ser74fs)
NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter) rs878853242
NM_000307.5(POU3F4):c.249dup (p.Gly84fs) rs1569280138
NM_000307.5(POU3F4):c.300dup (p.Val101fs)
NM_000307.5(POU3F4):c.340dup (p.Trp114fs) rs2147996471
NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe) rs1178113212
NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter) rs104894920
NM_000307.5(POU3F4):c.607_610del (p.Gln203fs) rs876657719
NM_000307.5(POU3F4):c.607_610dup (p.Arg204fs)
NM_000307.5(POU3F4):c.609_610del (p.Arg204fs) rs2147996672
NM_000307.5(POU3F4):c.648del (p.Leu217fs) rs1555984570
NM_000307.5(POU3F4):c.65_66del (p.Ser22fs) rs2147996200
NM_000307.5(POU3F4):c.669T>A (p.Tyr223Ter) rs1199790524
NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr) rs397516335
NM_000307.5(POU3F4):c.708= (p.Glu236=) rs5921978
NM_000307.5(POU3F4):c.708_710= (p.Glu236_Ala237=)
NM_000307.5(POU3F4):c.710= (p.Ala237=) rs5921979
NM_000307.5(POU3F4):c.767T>C (p.Leu256Pro)
NM_000307.5(POU3F4):c.80dup (p.Ser29fs)
NM_000307.5(POU3F4):c.845G>A (p.Arg282Gln)
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu) rs1060499806
NM_000307.5(POU3F4):c.853_854del (p.Ile285fs) rs397516336
NM_000307.5(POU3F4):c.854T>C (p.Ile285Thr)
NM_000307.5(POU3F4):c.862_865del (p.Val289fs) rs730882189
NM_000307.5(POU3F4):c.877C>G (p.Leu293Val) rs780027419
NM_000307.5(POU3F4):c.896del (p.Lys299fs) rs267606974
NM_000307.5(POU3F4):c.916C>T (p.Gln306Ter)
NM_000307.5(POU3F4):c.923T>A (p.Ile308Asn)
NM_000307.5(POU3F4):c.935C>T (p.Ala312Val) rs387906502
NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp) rs104894921
NM_000307.5(POU3F4):c.950dup (p.Leu317fs) rs398122516
NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly) rs104894924
NM_000307.5(POU3F4):c.968G>A (p.Arg323His) rs727505246
NM_000307.5(POU3F4):c.975G>A (p.Trp325Ter) rs1569280385
NM_000307.5(POU3F4):c.981T>A (p.Cys327Ter)
NM_000307.5(POU3F4):c.983A>G (p.Asn328Ser)
NM_000307.5(POU3F4):c.985C>G (p.Arg329Gly) rs926775037
NM_000307.5(POU3F4):c.985C>T (p.Arg329Ter)
NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser) rs104894923
NM_001110219.3(GJB6):c.*227dup rs368264636
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys) rs571454176
NM_002764.4(PRPS1):c.*137C>T rs1126445
NM_002764.4(PRPS1):c.*389G>A rs5962870
NM_002764.4(PRPS1):c.*389G>C rs5962870
NM_002764.4(PRPS1):c.*508G>C rs1198892283
NM_002764.4(PRPS1):c.*538G>C rs1057515727
NM_002764.4(PRPS1):c.*539G>C rs370453137
NM_002764.4(PRPS1):c.*539G>T rs370453137
NM_002764.4(PRPS1):c.*608C>T rs1925809901
NM_002764.4(PRPS1):c.*938dup rs1057515728
NM_002764.4(PRPS1):c.123-16dup rs750392051
NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn) rs180177151
NM_002764.4(PRPS1):c.244G>C (p.Ala82Pro)
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr) rs180177152
NM_002764.4(PRPS1):c.334G>A (p.Val112Ile) rs2147682370
NM_002764.4(PRPS1):c.337G>T (p.Ala113Ser) rs587781261
NM_002764.4(PRPS1):c.343A>G (p.Met115Val) rs587781262
NM_002764.4(PRPS1):c.830A>C (p.Gln277Pro) rs869025593
NM_002764.4(PRPS1):c.869T>C (p.Ile290Thr) rs180177153
NM_002764.4(PRPS1):c.916G>A (p.Gly306Arg) rs180177154
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg) rs878853241
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004208.4(AIFM1):c.-123G>C rs724160014
NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg) rs724160026
NM_004208.4(AIFM1):c.1241T>C (p.Ile414Thr) rs1603222490
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004208.4(AIFM1):c.1319C>T (p.Ala440Val) rs724160025
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln) rs863225431
NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu) rs724160022
NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His) rs724160024
NM_004208.4(AIFM1):c.1705A>G (p.Arg569Gly)
NM_004208.4(AIFM1):c.1773C>G (p.Ile591Met)
NM_004208.4(AIFM1):c.434C>T (p.Ala145Val) rs724160015
NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro) rs724160016
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) rs143670174
NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala) rs863225432
NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr) rs724160018
NM_004208.4(AIFM1):c.994C>G (p.Gln332Glu) rs2124653092
NM_014332.3(SMPX):c.*181A>G rs2092772738
NM_014332.3(SMPX):c.*232T>G rs1313352273
NM_014332.3(SMPX):c.*45A>T rs1057515838
NM_014332.3(SMPX):c.-54G>A rs1057515840
NM_014332.3(SMPX):c.109G>T (p.Glu37Ter) rs387906707
NM_014332.3(SMPX):c.130del (p.Glu44fs) rs398122848
NM_014332.3(SMPX):c.132+1G>A rs2147390444
NM_014332.3(SMPX):c.133-1G>A rs1060499590
NM_014332.3(SMPX):c.175G>T (p.Gly59Ter) rs387906706
NM_014332.3(SMPX):c.214G>T (p.Glu72Ter) rs387906708
NM_014332.3(SMPX):c.217del (p.Ile73fs)
NM_014332.3(SMPX):c.264G>A (p.Gln88=) rs1057515839
NM_014332.3(SMPX):c.29del (p.Asn10fs) rs2092830420
NM_014332.3(SMPX):c.99del (p.Arg34fs) rs398122930
NM_033641.4(COL4A6):c.1180+4dup rs368897242
NM_033641.4(COL4A6):c.1379G>A (p.Arg460Gln) rs34740537
NM_033641.4(COL4A6):c.1379G>T (p.Arg460Leu) rs34740537
NM_033641.4(COL4A6):c.1952-2785_1952-2784insAGA rs146680910
NM_033641.4(COL4A6):c.2132-6G>A rs201589060
NM_033641.4(COL4A6):c.2132-6G>T rs201589060
NM_033641.4(COL4A6):c.227G>A (p.Gly76Glu)
NM_033641.4(COL4A6):c.2506G>A (p.Gly836Ser)
NM_033641.4(COL4A6):c.4768C>T (p.Pro1590Ser) rs2148048891
NM_033641.4(COL4A6):c.628G>C (p.Gly210Arg)
NM_033641.4(COL4A6):c.687+30C>A rs1266730
NM_033641.4(COL4A6):c.74C>T (p.Ser25Phe)
NM_033641.4(COL4A6):c.853GAAAAGGGA[2] (p.285EKG[2]) rs772506311

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