ClinVar Miner

List of variants studied for nonsyndromic genetic hearing loss by WangQJ Lab, Chinese People's Liberation Army General Hospital

Included ClinVar conditions (246):
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ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_001292063.2(OTOG):c.516C>T (p.Pro172=) rs149868055 0.00055
NM_001145026.2(PTPRQ):c.6526G>A (p.Ala2176Thr) rs201371823 0.00021
NM_001145026.2(PTPRQ):c.6603-3T>G rs1195593420 0.00008
NM_016239.4(MYO15A):c.5977C>T (p.Arg1993Trp) rs759663463 0.00004
NM_016239.4(MYO15A):c.2017G>A (p.Gly673Arg) rs1462012083 0.00002
NM_178335.3(CCDC50):c.679C>T (p.Arg227Trp) rs1032719052 0.00002
NM_000260.4(MYO7A):c.1946G>A (p.Arg649Gln) rs1308203959 0.00001
NM_001292063.2(OTOG):c.7722C>T (p.Pro2574=) rs1260956852 0.00001
NM_022124.6(CDH23):c.8012G>A (p.Gly2671Asp) rs779222449 0.00001
NM_138691.3(TMC1):c.596A>G (p.Asn199Ser) rs756960425 0.00001
NM_138691.3(TMC1):c.797T>C (p.Ile266Thr) rs747645756 0.00001
NC_000010.11:g.53995649_54022892del
NC_000016.10:g.21730837_21730930del rs2141723087
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys) rs2135312491
NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His) rs2135577456
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter) rs1401619267
NM_000260.4(MYO7A):c.5043G>A (p.Val1681=) rs1295009131
NM_000260.4(MYO7A):c.6545G>C (p.Cys2182Ser) rs1382157968
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.593_600+8del rs2129311772
NM_001038603.3(MARVELD2):c.1122dup (p.Arg375Ter) rs2150915422
NM_001038603.3(MARVELD2):c.1208_1211del (p.Arg403fs) rs772030670
NM_001039141.3(TRIOBP):c.1342C>T (p.Arg448Ter) rs773152243
NM_001145026.2(PTPRQ):c.3873+5G>T rs1896196662
NM_001145026.2(PTPRQ):c.6113C>T (p.Pro2038Leu) rs1900298602
NM_001145026.2(PTPRQ):c.6194_6453+1del rs2121280782
NM_001145026.2(PTPRQ):c.6602G>A (p.Ser2201Asn) rs2121285243
NM_001378609.3(OTOGL):c.4279+1G>A rs2137876491
NM_001378609.3(OTOGL):c.6949T>C (p.Cys2317Arg) rs1197672891
NM_001384140.1(PCDH15):c.2756del (p.Met919fs) rs2134904455
NM_001384474.1(LOXHD1):c.759+5G>A rs2144311627
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.409A>C (p.Thr137Pro) rs2137307658
NM_004100.5(EYA4):c.964C>T (p.Gln322Ter) rs2128674939
NM_016239.4(MYO15A):c.10183C>T (p.Leu3395Phe) rs952306971
NM_016239.4(MYO15A):c.10360_10362del (p.Val3454del) rs2142436001
NM_016239.4(MYO15A):c.3435del (p.Lys1146fs) rs2142262660
NM_016239.4(MYO15A):c.4190C>A (p.Ser1397Tyr) rs1003360290
NM_016239.4(MYO15A):c.7711_7712dup (p.Gln2571fs) rs1267868260
NM_016239.4(MYO15A):c.8681T>C (p.Ile2894Thr) rs2142386490
NM_016239.4(MYO15A):c.9888_9898delinsTCGGGGGG (p.Leu3297_Gln3300delinsArgGlyGlu) rs2142413074
NM_017433.5(MYO3A):c.3093G>A (p.Trp1031Ter) rs2131991331
NM_133261.3(GIPC3):c.3_594del (p.Met1fs)
NM_138691.3(TMC1):c.1551A>C (p.Glu517Asp) rs2118194338
NM_144672.4(OTOA):c.1348A>G (p.Met450Val) rs2141697579
NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs) rs2141700836
NM_153700.2(STRC):c.3557_5328del (p.Gln1186fs)
NM_153700.2(STRC):c.4765G>T (p.Val1589Phe) rs147963245
NM_153700.2(STRC):c.64+1_3138+1del
NM_170682.4(P2RX2):c.459_554+1dup rs2138365971
NM_194248.3(OTOF):c.1804-2A>G rs2148056311
NM_194248.3(OTOF):c.2406+2dup rs2148051770
NM_194248.3(OTOF):c.2610_2615dup (p.Leu870_Leu871dup) rs2148050495
NM_194248.3(OTOF):c.2676G>A (p.Lys892=) rs2148050346
NM_194248.3(OTOF):c.2867-5_2881del rs1240121049
NM_194248.3(OTOF):c.2985C>A (p.Cys995Ter) rs2148047301
NM_194248.3(OTOF):c.3260A>T (p.Asp1087Val) rs2148044809
NM_194248.3(OTOF):c.5104-1G>T rs2148023761
NM_194248.3(OTOF):c.5108G>T (p.Arg1703Leu) rs529721333
NM_194248.3(OTOF):c.5109_5110insTTC (p.Arg1703_Leu1704insPhe) rs2148023735
NM_194248.3(OTOF):c.669del (p.Ala224fs) rs2148078546

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