ClinVar Miner

List of variants studied for auditory system disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
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HGVS dbSNP
NM_000123.3(ERCC5):c.348_352del (p.Arg116fs) rs1242579404
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp) rs1564430115
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys) rs1426533412
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys) rs782808261
NM_000268.4(NF2):c.4G>T (p.Ala2Ser) rs1601515682
NM_000356.4(TCOF1):c.3449C>T (p.Ser1150Phe) rs1554079581
NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro) rs773206107
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957
NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del) rs1569041188
NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg) rs1555896093
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235
NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter)
NM_001042517.2(DIAPH3):c.1439C>G (p.Thr480Arg) rs766502252
NM_001084.5(PLOD3):c.1684C>T (p.Pro562Ser)
NM_001114086.2(CLIC5):c.237A>T (p.Arg79Ser) rs41271277
NM_001128840.3(CACNA1D):c.5498A>G (p.Tyr1833Cys) rs1559716901
NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His) rs150366975
NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly) rs1568249130
NM_001142771.2(PCDH15):c.4816dup (p.Met1606fs) rs766484375
NM_001145026.2(PTPRQ):c.386T>G (p.Ile129Ser) rs1555180294
NM_001145308.4(LRTOMT):c.538G>A (p.Gly180Ser) rs529549122
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser) rs887619644
NM_001145809.2(MYH14):c.1979G>A (p.Gly660Asp) rs1568504395
NM_001145809.2(MYH14):c.2845C>T (p.Arg949Cys) rs755994602
NM_001145809.2(MYH14):c.3468-3C>T rs78192108
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys) rs556548077
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) rs74315438
NM_001174089.2(SLC4A11):c.2062G>A (p.Ala688Thr) rs748362724
NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter) rs1567411469
NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys) rs139626312
NM_001354604.2(MITF):c.1072G>A (p.Val358Met) rs1271000541
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln) rs200269431
NM_002473.6(MYH9):c.4747AAG[2] (p.Lys1585del) rs770925540
NM_002968.2(SALL1):c.477_478insAGCAGCGGC (p.Gly160_Gly161insSerSerGly) rs1555475415
NM_003047.5(SLC9A1):c.856G>A (p.Val286Met) rs764274123
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004070.4(CLCNKA):c.1613G>C (p.Arg538Pro) rs762119830
NM_004070.4(CLCNKA):c.17G>A (p.Gly6Glu) rs773206825
NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter) rs202069201
NM_004086.3(COCH):c.1150C>T (p.Arg384Cys) rs756541797
NM_004278.4(PIGL):c.263G>A (p.Arg88His) rs755380500
NM_004526.4(MCM2):c.1624C>T (p.Arg542Ter) rs755835919
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser) rs201433617
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) rs147157374
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys)
NM_013296.5(GPSM2):c.124G>A (p.Ala42Thr) rs780911321
NM_013296.5(GPSM2):c.1546_1553del (p.Cys516fs) rs1553216524
NM_014918.5(CHSY1):c.179_190dup (p.Gly60_Gly63dup) rs1555437965
NM_015120.4(ALMS1):c.12311_12313del (p.Ala4104_Ile4105delinsVal) rs1553422036
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738
NM_015404.4(WHRN):c.1469G>A (p.Arg490His) rs587776360
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016239.4(MYO15A):c.8614G>A (p.Val2872Met) rs368088727
NM_016929.5(CLIC5):c.334A>G (p.Asn112Asp) rs564438778
NM_017433.5(MYO3A):c.3155G>A (p.Arg1052Gln) rs267602452
NM_017780.4(CHD7):c.3710A>T (p.Asn1237Ile) rs775459114
NM_017780.4(CHD7):c.8278AATCTCCAG[1] (p.2760NLQ[1]) rs747665912
NM_018060.4(IARS2):c.1504A>C (p.Ile502Leu) rs747014267
NM_018344.6(SLC29A3):c.122del (p.Pro41fs)
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930
NM_020632.3(ATP6V0A4):c.1904A>C (p.His635Pro) rs1554393418
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) rs1554857840
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049
NM_022124.6(CDH23):c.8239del (p.Val2747fs) rs1554877007
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667
NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe) rs1338945655
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750
NM_033380.3(COL4A5):c.2510-33A>G rs104886358
NM_052859.4(RFT1):c.778G>A (p.Glu260Lys) rs766766673
NM_080680.3(COL11A2):c.2754del (p.Gly919fs) rs1562336726
NM_138691.3(TMC1):c.236+1G>A rs775428246
NM_144612.6(LOXHD1):c.2913_2921del (p.Glu976_Glu978del) rs753461629
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144672.4(OTOA):c.1820C>T (p.Ala607Val) rs764347046
NM_144672.4(OTOA):c.1831T>C (p.Trp611Arg) rs1567391195
NM_145207.3(SPATA5):c.2405G>A (p.Arg802Lys)
NM_145207.3(SPATA5):c.2456T>C (p.Val819Ala) rs149604630
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln) rs776511246
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509
NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp)
NM_182476.3(COQ6):c.1256A>C (p.His419Pro) rs1180320611
NM_182548.4(LHFPL5):c.327T>G (p.Ile109Met) rs760970028
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463
NM_194248.3(OTOF):c.61G>A (p.Ala21Thr) rs778670384
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502
NM_206933.3(USH2A):c.1571C>T (p.Ala524Val) rs772624410
NM_207361.6(FREM2):c.5503G>A (p.Ala1835Thr) rs767743882

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