ClinVar Miner

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

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_001145809.2(MYH14):c.3468-3C>T rs78192108 0.01724
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_001114086.2(CLIC5):c.237A>T (p.Arg79Ser) rs41271277 0.00309
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235 0.00119
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032 0.00036
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) rs147157374 0.00029
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463 0.00019
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_016929.5(CLIC5):c.334A>G (p.Asn112Asp) rs564438778 0.00008
NM_001145809.2(MYH14):c.2845C>T (p.Arg949Cys) rs755994602 0.00006
NM_004086.3(COCH):c.1150C>T (p.Arg384Cys) rs756541797 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) rs74315438 0.00004
NM_017433.5(MYO3A):c.3155G>A (p.Arg1052Gln) rs267602452 0.00003
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_182548.4(LHFPL5):c.327T>G (p.Ile109Met) rs760970028 0.00003
NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter) rs750355652 0.00002
NM_001042517.2(DIAPH3):c.1439C>G (p.Thr480Arg) rs766502252 0.00002
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys) rs782808261 0.00001
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser) rs887619644 0.00001
NM_001393500.2(TOMT):c.439G>A (p.Gly147Ser) rs529549122 0.00001
NM_004526.4(MCM2):c.1624C>T (p.Arg542Ter) rs755835919 0.00001
NM_016239.4(MYO15A):c.8614G>A (p.Val2872Met) rs368088727 0.00001
NM_194248.3(OTOF):c.61G>A (p.Ala21Thr) rs778670384 0.00001
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del) rs1569041188
NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg) rs1555896093
NM_001145026.2(PTPRQ):c.386T>G (p.Ile129Ser) rs1555180294
NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter) rs1567411469
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001384474.1(LOXHD1):c.2913_2921del (p.Glu976_Glu978del) rs753461629
NM_002473.6(MYH9):c.4747AAG[2] (p.Lys1585del) rs770925540
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser) rs201433617
NM_015404.4(WHRN):c.1469G>A (p.Arg490His) rs587776360
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_080680.3(COL11A2):c.2754del (p.Gly919fs) rs1562336726
NM_144672.4(OTOA):c.1820C>T (p.Ala607Val) rs764347046
NM_144672.4(OTOA):c.1831T>C (p.Trp611Arg) rs1567391195
NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp) rs963383651

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