ClinVar Miner

List of variants studied for auditory system disease by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (549):
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ClinVar version:
Total variants: 130
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HGVS dbSNP
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter) rs772801089
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs) rs797045562
NM_000356.4(TCOF1):c.386_387del (p.Thr129fs) rs797046037
NM_000356.4(TCOF1):c.4134dup (p.Glu1379fs) rs587776585
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405
NM_003611.3(OFD1):c.231A>C (p.Leu77Phe) rs587784232
NM_003611.3(OFD1):c.877_878del (p.Met293fs) rs312262858
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) rs111033335
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr) rs587783645
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.314_329del (p.Lys105fs) rs797045596
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) 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.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004278.4(PIGL):c.169T>C (p.Phe57Leu) rs587784324
NM_004278.4(PIGL):c.30G>T (p.Ala10=) rs147669920
NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr) rs114670807
NM_004278.4(PIGL):c.354A>G (p.Pro118=) rs149094276
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467
NM_004278.4(PIGL):c.426+14T>C rs138467285
NM_004278.4(PIGL):c.426+8G>A rs145914582
NM_004278.4(PIGL):c.439G>A (p.Asp147Asn) rs148238492
NM_004278.4(PIGL):c.480G>A (p.Leu160=) rs114697377
NM_004278.4(PIGL):c.493A>C (p.Arg165=) rs184077858
NM_004278.4(PIGL):c.4G>A (p.Glu2Lys) rs150000731
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004278.4(PIGL):c.526+10G>A rs138410893
NM_004278.4(PIGL):c.534T>C (p.Ser178=) rs114145762
NM_004278.4(PIGL):c.535G>A (p.Val179Met) rs116591352
NM_004278.4(PIGL):c.540C>T (p.Leu180=) rs115695383
NM_004278.4(PIGL):c.595T>C (p.Leu199=) rs114176862
NM_004278.4(PIGL):c.627C>T (p.Phe209=) rs146164310
NM_004278.4(PIGL):c.652C>G (p.Gln218Glu) rs139004722
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_006005.3(WFS1):c.1237TTC[1] (p.Phe414del) rs797046112
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter) rs369107336
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter) rs777580652
NM_015120.4(ALMS1):c.10483C>T (p.Gln3495Ter) rs772624348
NM_015120.4(ALMS1):c.10885C>T (p.Arg3629Ter) rs1473611414
NM_015120.4(ALMS1):c.4156dup (p.Thr1386fs) rs797045228
NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) rs770558150
NM_015120.4(ALMS1):c.6571_6574del (p.Ser2191fs) rs1034630858
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) rs780170125
NM_017780.4(CHD7):c.1246G>T (p.Gly416Ter) rs587783428
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1512A>G (p.Gln504=) rs587783430
NM_017780.4(CHD7):c.1678dup (p.Glu560fs) rs797045461
NM_017780.4(CHD7):c.191_194del (p.Thr64fs) rs587783431
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453
NM_017780.4(CHD7):c.2502_2509dup (p.His837fs) rs797045463
NM_017780.4(CHD7):c.2613+1G>A rs587783432
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter) rs797045465
NM_017780.4(CHD7):c.2643T>G (p.Tyr881Ter) rs587783433
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter) rs587783434
NM_017780.4(CHD7):c.2830C>A (p.Arg944Ser) rs587783435
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs) rs587783436
NM_017780.4(CHD7):c.3201+3A>T rs587783437
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser) rs587783439
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter) rs587783440
NM_017780.4(CHD7):c.4353+3A>G rs587783441
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4534-13T>G rs114996731
NM_017780.4(CHD7):c.4634del (p.Ala1544_Leu1545insTer) rs587783443
NM_017780.4(CHD7):c.4760C>T (p.Pro1587Leu) rs587783444
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter) rs797045467
NM_017780.4(CHD7):c.528dup (p.Pro177fs) rs797045468
NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys) rs587783445
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter) rs587783446
NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter) rs587783447
NM_017780.4(CHD7):c.5638dup (p.Glu1880fs) rs797045469
NM_017780.4(CHD7):c.5666-2A>C rs587783448
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=) rs587783449
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) rs201083157
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) rs587783451
NM_017780.4(CHD7):c.6356A>G (p.Asp2119Gly) rs587783452
NM_017780.4(CHD7):c.6446del (p.Gly2149fs) rs797045470
NM_017780.4(CHD7):c.6526del (p.Glu2176fs) rs797045471
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301
NM_017780.4(CHD7):c.6825dup (p.Met2276fs) rs797045472
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter) rs587783454
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017780.4(CHD7):c.7384_7387del (p.Ser2462fs) rs587783456
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) rs587783457
NM_017780.4(CHD7):c.7940_7941dup (p.Pro2648fs) rs797045473
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.8055G>A (p.Trp2685Ter) rs587783459
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp) rs387907067
NM_018344.6(SLC29A3):c.1228C>T (p.Gln410Ter) rs587780462
NM_018344.6(SLC29A3):c.300+1G>A rs587780463
NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter) rs746408350
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) rs755750961
NM_025074.7(FRAS1):c.7522+1G>T rs730882180
NM_174878.3(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_182476.3(COQ6):c.1069del (p.Val357fs) rs1555358729

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