ClinVar Miner

List of variants reported as likely pathogenic by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_194248.3(OTOF):c.4227+1G>T rs397515601 0.00009
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407 0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_014208.3(DSPP):c.3248_3249insC (p.Glu1083fs) rs1553904404 0.00003
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620 0.00002
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115 0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710 0.00001
NM_000142.5(FGFR3):c.2287C>T (p.Leu763=) rs774517056
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000260.4(MYO7A):c.1798-1G>T rs1555076948
NM_000260.4(MYO7A):c.6237+1G>A rs1338605788
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1343C>G (p.Ser448Trp) rs747076316
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter) rs1569034190
NM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser) rs1569040134
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter) rs768126403
NM_001128228.3(TPRN):c.1159G>T (p.Glu387Ter) rs1187168418
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg) rs786204841
NM_001354604.2(MITF):c.1031+1G>A rs1559749017
NM_001354604.2(MITF):c.928A>G (p.Arg310Gly) rs2066264802
NM_001384140.1(PCDH15):c.2869-1G>T rs1554883705
NM_001393500.2(TOMT):c.285_286insCTCG (p.Glu96fs) rs1565331646
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_005247.4(FGF3):c.462C>G (p.Tyr154Ter) rs782712529
NM_005797.4(MPZL2):c.3G>T (p.Met1Ile)
NM_006941.4(SOX10):c.335T>G (p.Met112Arg) rs1932463844
NM_006941.4(SOX10):c.386T>C (p.Leu129Pro) rs1932462410
NM_016239.4(MYO15A):c.1971G>A (p.Trp657Ter) rs1567623176
NM_016239.4(MYO15A):c.3233G>A (p.Trp1078Ter) rs866595552
NM_016239.4(MYO15A):c.5941G>T (p.Gly1981Trp) rs1240409145
NM_016239.4(MYO15A):c.6177+1G>T rs751142446
NM_016239.4(MYO15A):c.8088+1G>A rs773461233
NM_016239.4(MYO15A):c.9084-1G>T rs1567658906
NM_017433.5(MYO3A):c.2636-1G>T rs1564602202
NM_022124.6(CDH23):c.6067_6070dup (p.Gly2024fs) rs1564795354
NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter) rs1561790371
NM_032119.4(ADGRV1):c.16197-1G>T rs1561805689
NM_153676.4(USH1C):c.2352_2353del (p.Val784_Tyr785insTer) rs1591961566
NM_153700.2(STRC):c.4564G>T (p.Gly1522Ter) rs763904943
NM_181458.4(PAX3):c.755T>C (p.Leu252Pro) rs1692619812

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