ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 1A by Illumina Laboratory Services, Illumina

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Total variants: 71
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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_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_004004.6(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.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_004004.6(GJB2):c.*115A>C rs557953001 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.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882 0.00015
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
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.37G>A (p.Val13Met) rs768130937 0.00010
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.*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.287C>G (p.Ala96Gly) rs201839979 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
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.174A>G (p.Pro58=) rs778922005 0.00001
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn) rs104894403 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 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.60T>G (p.Ile20Met) rs749693224 0.00001
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004004.6(GJB2):c.*1206T>G rs886050026
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.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939

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