ClinVar Miner

List of variants studied for perceptual disorders by Deafness Molecular Diagnostic Center, Chinese PLA General Hospital

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1002G>T (p.Gly334=) rs1791494228 0.00001
NM_000260.4(MYO7A):c.1091dup (p.Asp365fs) rs1952854443
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys) rs2135312491
NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter) rs1957844295
NM_000260.4(MYO7A):c.6325A>C (p.Thr2109Pro) rs2135791193
NM_000260.4(MYO7A):c.6491del (p.Asn2164fs) rs2135802675
NM_000307.5(POU3F4):c.609_610del (p.Arg204fs) rs2147996672
NM_000307.5(POU3F4):c.65_66del (p.Ser22fs) rs2147996200
NM_000307.5(POU3F4):c.669T>A (p.Tyr223Ter) rs1199790524
NM_000307.5(POU3F4):c.985C>G (p.Arg329Gly) rs926775037
NM_000441.2(SLC26A4):c.1325T>C (p.Leu442Pro) rs2129316904
NM_000441.2(SLC26A4):c.1327G>C (p.Glu443Gln) rs2129316906
NM_000441.2(SLC26A4):c.1342-1_1342insCTG rs2129316936
NM_000441.2(SLC26A4):c.1369A>G (p.Asn457Asp) rs2129316944
NM_000441.2(SLC26A4):c.1552T>G (p.Trp518Gly) rs2129317522
NM_000441.2(SLC26A4):c.1594A>C (p.Ser532Arg) rs2129317533
NM_000441.2(SLC26A4):c.1657C>T (p.Pro553Ser) rs2129317904
NM_000441.2(SLC26A4):c.1716T>A (p.Phe572Leu) rs2129318096
NM_000441.2(SLC26A4):c.1803+1G>C rs2129318119
NM_000441.2(SLC26A4):c.1828del (p.Ser610fs) rs2129318234
NM_000441.2(SLC26A4):c.1985G>A (p.Cys662Tyr) rs2129318278
NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser) rs121908360
NM_000441.2(SLC26A4):c.2039del (p.Val680fs) rs2129318784
NM_000441.2(SLC26A4):c.2107C>G (p.Leu703Val) rs2129319905
NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg) rs2129309202
NM_000441.2(SLC26A4):c.305-1G>A rs1243584839
NM_000441.2(SLC26A4):c.3G>A (p.Met1Ile) rs786204426
NM_000441.2(SLC26A4):c.401G>C (p.Arg134Thr) rs1790889845
NM_000441.2(SLC26A4):c.421T>C (p.Phe141Leu) rs2129311722
NM_000441.2(SLC26A4):c.600+2T>C rs1057516881
NM_000441.2(SLC26A4):c.614G>T (p.Gly205Val) rs2129311931
NM_000441.2(SLC26A4):c.624_632delinsACTTGGC (p.Gly209fs) rs2129311939
NM_000441.2(SLC26A4):c.667_669dup (p.Phe223dup) rs2129311948
NM_000441.2(SLC26A4):c.698_701del (p.Val233fs) rs2129311957
NM_000441.2(SLC26A4):c.79T>C (p.Tyr27His) rs2129308726
NM_000441.2(SLC26A4):c.812A>G (p.Asp271Gly) rs2129314461
NM_001031679.3(MSRB3):c.406G>A (p.Gly136Arg) rs2136722469
NM_001039141.3(TRIOBP):c.3672_3673del (p.Arg1225fs) rs2145835560
NM_001042702.5(PJVK):c.880C>A (p.His294Asn) rs2154126353
NM_001145809.2(MYH14):c.5990del (p.Thr1997fs) rs2123499275
NM_001199107.2(TBC1D24):c.370C>A (p.Gln124Lys) rs2141871461
NM_001199107.2(TBC1D24):c.523G>C (p.Ala175Pro) rs2141871916
NM_001256317.3(TMPRSS3):c.147dup (p.Pro50fs) rs2146452391
NM_001384140.1(PCDH15):c.317A>T (p.Asp106Val) rs2135022416
NM_001384140.1(PCDH15):c.754_755insAA (p.Thr252fs) rs2133652254
NM_001384474.1(LOXHD1):c.6541del (p.Ala2181fs) rs2143422217
NM_002700.3(POU4F3):c.770C>T (p.Ala257Val) rs765036368
NM_004004.6(GJB2):c.157T>A (p.Cys53Ser) rs1555341986
NM_004004.6(GJB2):c.232G>A (p.Ala78Thr) rs1959060696
NM_004004.6(GJB2):c.446C>A (p.Ala149Asp) rs2137307574
NM_004100.5(EYA4):c.804+2T>A rs2128665071
NM_004100.5(EYA4):c.804+2del rs2128665075
NM_004208.4(AIFM1):c.1705A>G (p.Arg569Gly)
NM_004208.4(AIFM1):c.1773C>G (p.Ile591Met)
NM_014332.3(SMPX):c.132+1G>A rs2147390444
NM_016239.4(MYO15A):c.10350+6T>C rs2142431211
NM_016239.4(MYO15A):c.10419_10423del (p.Ser3474fs) rs2142436425
NM_016239.4(MYO15A):c.10538_10544del (p.Leu3513fs) rs2142451116
NM_016239.4(MYO15A):c.1661del (p.Gly554fs) rs1245338270
NM_016239.4(MYO15A):c.212del (p.Lys71fs) rs2142236554
NM_016239.4(MYO15A):c.2266_2272dup (p.Pro758fs) rs2142253567
NM_016239.4(MYO15A):c.3693-2A>G rs2142274411
NM_016239.4(MYO15A):c.3904del (p.Met1302fs) rs2142282007
NM_016239.4(MYO15A):c.4195A>T (p.Ile1399Phe) rs2142300755
NM_016239.4(MYO15A):c.4461C>A (p.Asn1487Lys) rs201076604
NM_016239.4(MYO15A):c.4482+2T>C rs2142307505
NM_016239.4(MYO15A):c.4538C>T (p.Ala1513Val) rs2142315607
NM_016239.4(MYO15A):c.4596+2_4596+3del rs2142315894
NM_016239.4(MYO15A):c.5095T>G (p.Phe1699Val) rs2142328605
NM_016239.4(MYO15A):c.5193_5194insACAG (p.Val1732fs) rs2142330998
NM_016239.4(MYO15A):c.5683G>A (p.Glu1895Lys) rs2142341062
NM_016239.4(MYO15A):c.5835T>G (p.Tyr1945Ter) rs2142343642
NM_016239.4(MYO15A):c.6045A>T (p.Ala2015=) rs2142347739
NM_016239.4(MYO15A):c.6551_6552del (p.Cys2184fs) rs2142360575
NM_016239.4(MYO15A):c.6898A>T (p.Lys2300Ter) rs2142363296
NM_016239.4(MYO15A):c.7654+1G>A rs1338603862
NM_016239.4(MYO15A):c.8474T>C (p.Leu2825Pro) rs2142384242
NM_016239.4(MYO15A):c.9482A>C (p.Gln3161Pro) rs2142399231
NM_016239.4(MYO15A):c.9690+1G>A rs2142404134
NM_016239.4(MYO15A):c.9820T>C (p.Tyr3274His) rs2142412720
NM_016239.4(MYO15A):c.9941del (p.Tyr3314fs) rs2142413310
NM_017433.5(MYO3A):c.3737_3738del (p.Glu1246fs) rs2132036795
NM_022124.6(CDH23):c.146-1G>C rs1564623280
NM_022124.6(CDH23):c.2956del (p.Leu986fs) rs2132745856
NM_022124.6(CDH23):c.3371T>G (p.Leu1124Arg) rs2132800007
NM_022124.6(CDH23):c.3972G>C (p.Glu1324Asp) rs1839415432
NM_022124.6(CDH23):c.4457A>C (p.Asp1486Ala) rs2132844311
NM_022124.6(CDH23):c.4884T>A (p.Asn1628Lys) rs777745599
NM_022124.6(CDH23):c.5992G>A (p.Val1998Met) rs2132948074
NM_022124.6(CDH23):c.6368G>A (p.Gly2123Glu) rs1187008343
NM_022124.6(CDH23):c.6725T>A (p.Val2242Glu) rs772264240
NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser) rs397517356
NM_022124.6(CDH23):c.8560G>T (p.Gly2854Trp) rs2132989902
NM_022124.6(CDH23):c.8722G>C (p.Gly2908Arg) rs2132990819
NM_022124.6(CDH23):c.8782T>G (p.Phe2928Val) rs1352008121
NM_022124.6(CDH23):c.9078-7C>A rs749510793
NM_138691.3(TMC1):c.150del (p.Asn50fs) rs2132189585
NM_138691.3(TMC1):c.1765A>G (p.Met589Val) rs2118298286
NM_138691.3(TMC1):c.642+4A>C rs2118056443
NM_144672.4(OTOA):c.774A>C (p.Leu258Phe) rs2141672622
NM_147196.3(TMIE):c.144_145del (p.Val49fs) rs1700545926
NM_170682.4(P2RX2):c.1055T>G (p.Val352Gly) rs2138394748
NM_182548.4(LHFPL5):c.462_472dup (p.Arg158fs) rs2151070794
NM_194248.3(OTOF):c.1364_1366delinsTTGC (p.Tyr455fs) rs2148060432
NM_194248.3(OTOF):c.1432T>C (p.Trp478Arg)
NM_194248.3(OTOF):c.1912+5G>C rs2148056188
NM_194248.3(OTOF):c.1962dup (p.Pro655fs) rs751564248
NM_194248.3(OTOF):c.2215-1G>C
NM_194248.3(OTOF):c.2407-2del
NM_194248.3(OTOF):c.2985C>A (p.Cys995Ter) rs2148047301
NM_194248.3(OTOF):c.3592dup (p.Leu1198fs)
NM_194248.3(OTOF):c.3674C>G (p.Ser1225Cys)
NM_194248.3(OTOF):c.4110_4120dup (p.Lys1374fs)
NM_194248.3(OTOF):c.4493T>A (p.Val1498Glu)
NM_194248.3(OTOF):c.5108_5114delinsTCTTCCTGGG (p.Arg1703_Glu1705delinsLeuPheLeuGly) rs2148023717
NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del) rs2148021052
NM_194248.3(OTOF):c.5360G>A (p.Gly1787Asp) rs2148020419
NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp) rs2148018483
NM_194248.3(OTOF):c.5833del (p.Ile1945fs)
NM_194248.3(OTOF):c.764A>C (p.Gln255Pro)

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