ClinVar Miner

List of variants studied for KID syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.*1277T>C rs7988691 0.99748
NM_004004.6(GJB2):c.*1152G>A rs7623 0.89599
NM_004004.6(GJB2):c.*84T>C rs3751385 0.73662
NM_001127.4(AP1B1):c.204A>G (p.Leu68=) rs2072051 0.63578
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_004004.6(GJB2):c.*104A>T rs7337074 0.06800
NM_004004.5(GJB2):c.*1447G>A rs11839674 0.04460
NM_004004.6(GJB2):c.*1197T>A rs11841182 0.04451
NM_004004.6(GJB2):c.*168A>G rs55704559 0.04011
NM_004004.6(GJB2):c.*931C>T rs5030700 0.03992
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_004004.6(GJB2):c.*786G>A rs187158699 0.00347
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_004004.6(GJB2):c.*1016A>G rs537683957 0.00158
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_004004.6(GJB2):c.*115A>C rs557953001 0.00058
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_004004.6(GJB2):c.*423C>T rs112457424 0.00029
NM_004004.6(GJB2):c.*598C>A rs550600399 0.00029
NM_004004.6(GJB2):c.*1033G>A rs185790172 0.00026
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882 0.00015
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004004.6(GJB2):c.*114T>C rs182085649 0.00012
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_004004.6(GJB2):c.*800A>G rs886050027 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937 0.00010
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_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu) rs374572413 0.00005
NM_004004.6(GJB2):c.*1040A>G rs1370756376 0.00004
NM_004004.6(GJB2):c.*236A>T rs922232025 0.00004
NM_004004.6(GJB2):c.*308G>A rs886090162 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_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.287C>G (p.Ala96Gly) rs201839979 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_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 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_001127.4(AP1B1):c.322C>T (p.Arg108Trp) rs1160266009 0.00001
NM_004004.6(GJB2):c.*550A>G rs1959051090 0.00001
NM_004004.6(GJB2):c.*679T>C rs1006432105 0.00001
NM_004004.6(GJB2):c.*979A>G rs546826225 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723 0.00001
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903 0.00001
NM_004004.6(GJB2):c.174A>G (p.Pro58=) rs778922005 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn) rs104894403 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.546G>A (p.Val182=) rs752236261 0.00001
NM_004004.6(GJB2):c.557C>T (p.Thr186Met) rs753674300 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NC_000022.10:g.29758984_29815476del
NM_001127.4(AP1B1):c.1263C>A (p.Tyr421Ter) rs2147978539
NM_001127.4(AP1B1):c.1852C>T (p.Gln618Ter) rs1334834057
NM_001127.4(AP1B1):c.2335del (p.Leu779fs) rs1602683532
NM_001127.4(AP1B1):c.2349G>A (p.Ala783=) rs174765
NM_001127.4(AP1B1):c.2374G>T (p.Glu792Ter) rs780548317
NM_001127.4(AP1B1):c.2677C>T (p.Gln893Ter)
NM_001127.4(AP1B1):c.2T>C (p.Met1Thr) rs2148022135
NM_001127.4(AP1B1):c.38-1G>A rs1602761438
NM_001127.4(AP1B1):c.430T>C (p.Cys144Arg) rs1602749299
NM_001127.4(AP1B1):c.668T>C (p.Leu223Pro) rs2147995205
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*1291_*1294del rs886050025
NM_004004.6(GJB2):c.*385G>C rs1959052059
NM_004004.6(GJB2):c.*412A>C rs547859391
NM_004004.6(GJB2):c.*482A>G rs886050028
NM_004004.6(GJB2):c.*52C>T rs1959054328
NM_004004.6(GJB2):c.*544T>C rs564755659
NM_004004.6(GJB2):c.-170C>G rs1006263046
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr) rs28931594
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.244A>G (p.Ile82Val) rs1566528711
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg) rs104894408
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.50C>T (p.Ser17Phe) rs28929485
NM_004004.6(GJB2):c.524C>G (p.Pro175Arg) rs2137307322
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
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

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