ClinVar Miner

List of variants reported as pathogenic 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: 59
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.1091dup (p.Asp365fs) rs1952854443
NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter) rs1957844295
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_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.1594A>C (p.Ser532Arg) rs2129317533
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.421T>C (p.Phe141Leu) rs2129311722
NM_000441.2(SLC26A4):c.600+2T>C rs1057516881
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_001039141.3(TRIOBP):c.3672_3673del (p.Arg1225fs) rs2145835560
NM_001145809.2(MYH14):c.5990del (p.Thr1997fs) rs2123499275
NM_001256317.3(TMPRSS3):c.147dup (p.Pro50fs) rs2146452391
NM_001384474.1(LOXHD1):c.6541del (p.Ala2181fs) rs2143422217
NM_004004.6(GJB2):c.157T>A (p.Cys53Ser) rs1555341986
NM_004100.5(EYA4):c.804+2T>A rs2128665071
NM_004100.5(EYA4):c.804+2del rs2128665075
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.4596+2_4596+3del rs2142315894
NM_016239.4(MYO15A):c.5193_5194insACAG (p.Val1732fs) rs2142330998
NM_016239.4(MYO15A):c.6898A>T (p.Lys2300Ter) rs2142363296
NM_016239.4(MYO15A):c.7654+1G>A rs1338603862
NM_016239.4(MYO15A):c.9690+1G>A rs2142404134
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_138691.3(TMC1):c.150del (p.Asn50fs) rs2132189585
NM_147196.3(TMIE):c.144_145del (p.Val49fs) rs1700545926
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.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.4110_4120dup (p.Lys1374fs)
NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del) rs2148021052
NM_194248.3(OTOF):c.5833del (p.Ile1945fs)

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