ClinVar Miner

List of variants studied for perceptual disorders by King Laboratory, University of Washington

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.*239C>T rs113516368 0.00237
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_001378609.3(OTOGL):c.6019+5G>A rs368712763 0.00046
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_016239.4(MYO15A):c.8080C>A (p.Arg2694Ser) rs371730430 0.00006
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133 0.00004
NM_153700.2(STRC):c.3794C>T (p.Pro1265Leu) rs371994634 0.00004
NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys) rs781916427 0.00003
NM_001378457.1(DMXL2):c.7250G>A (p.Arg2417His) rs754786373 0.00003
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) rs759360026 0.00002
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) rs749798053 0.00002
NM_001384474.1(LOXHD1):c.757C>T (p.Gln253Ter) rs909435840 0.00002
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu) rs778251205 0.00002
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn) rs770665588 0.00002
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) rs139956283 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_000260.4(MYO7A):c.1545G>T (p.Lys515Asn) rs782313585 0.00001
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182 0.00001
NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter) rs1060499802 0.00001
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter) rs747095250 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_000441.2(SLC26A4):c.415+7A>G rs765884316 0.00001
NM_001039213.4(CEACAM16):c.1097C>T (p.Pro366Leu) rs762367899 0.00001
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter) rs367688416 0.00001
NM_001195263.2(PDZD7):c.928+1G>A rs778565403 0.00001
NM_022124.6(CDH23):c.6533T>A (p.Ile2178Asn) rs772953914 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter) rs876657725 0.00001
NM_153700.2(STRC):c.4012C>T (p.Arg1338Ter) rs755471554 0.00001
NC_000011.10:g.17634839_17634845dup rs1295062471
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.2187+1G>T rs111033290
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.4153-2A>G rs1060499803
NM_000260.4(MYO7A):c.4297C>T (p.Gln1433Ter) rs2135620605
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser) rs1201586094
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter) rs530520654
NM_000260.4(MYO7A):c.5552T>C (p.Leu1851Pro)
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000307.5(POU3F4):c.300dup (p.Val101fs)
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1054del (p.Ala352fs) rs2129315801
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1341+1del rs397516417
NM_000441.2(SLC26A4):c.1717G>C (p.Asp573His)
NM_000441.2(SLC26A4):c.1730T>G (p.Val577Gly)
NM_000441.2(SLC26A4):c.203T>C (p.Leu68Pro)
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu) rs2129309208
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser) rs1409565648
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_001038603.3(MARVELD2):c.608dup (p.Leu203fs) rs2150914115
NM_001039141.3(TRIOBP):c.1783C>T (p.Arg595Ter) rs371412957
NM_001039141.3(TRIOBP):c.1861C>T (p.Arg621Ter)
NM_001039141.3(TRIOBP):c.2581C>T (p.Arg861Ter)
NM_001039876.3(SYNE4):c.336C>A (p.Cys112Ter)
NM_001080476.3(GRXCR1):c.668T>A (p.Leu223Gln)
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=) rs774544844
NM_001199799.2(ILDR1):c.294del (p.Val99fs) rs2071591086
NM_001199799.2(ILDR1):c.820C>T (p.Gln274Ter) rs2107644932
NM_001256317.3(TMPRSS3):c.1328T>C (p.Ile443Thr)
NM_001256317.3(TMPRSS3):c.188T>G (p.Leu63Arg)
NM_001256317.3(TMPRSS3):c.818G>T (p.Gly273Val)
NM_001256317.3(TMPRSS3):c.917C>T (p.Ala306Val)
NM_001256317.3(TMPRSS3):c.999del (p.Asp334fs)
NM_001292063.2(OTOG):c.3546C>A (p.Tyr1182Ter)
NM_001292063.2(OTOG):c.6469del (p.Leu2156_Val2157insTer)
NM_001292063.2(OTOG):c.7686C>G (p.Tyr2562Ter)
NM_001292063.2(OTOG):c.8632C>T (p.Arg2878Cys)
NM_001378457.1(DMXL2):c.8219G>A (p.Arg2740His)
NM_001378609.3(OTOGL):c.4600+1G>T
NM_001384140.1(PCDH15):c.1178C>T (p.Pro393Leu)
NM_001384140.1(PCDH15):c.417C>G (p.Asp139Glu) rs2134714388
NM_001384140.1(PCDH15):c.4671+1164_4671+1167del rs483353074
NM_001384140.1(PCDH15):c.4671+1217C>T rs1056396947
NM_001384140.1(PCDH15):c.4671+1349_4671+1353dup
NM_001384474.1(LOXHD1):c.3727C>T (p.Arg1243Trp)
NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp)
NM_001384474.1(LOXHD1):c.6182+1G>T rs200375658
NM_001384474.1(LOXHD1):c.6342-1G>A
NM_001614.5(ACTG1):c.848T>C (p.Met283Thr) rs2143775617
NM_002700.3(POU4F3):c.54del (p.Glu18fs) rs2126960889
NM_002700.3(POU4F3):c.694G>T (p.Glu232Ter) rs2126961780
NM_002906.4(RDX):c.513_514del (p.Arg171fs) rs2134364635
NM_003672.4(CDC14A):c.50-1G>T rs2100872719
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004100.5(EYA4):c.992dup (p.Ser331fs)
NM_004287.5(GOSR2):c.1A>C (p.Met1Leu)
NM_004999.4(MYO6):c.188-1G>T
NM_004999.4(MYO6):c.2777T>A (p.Leu926Gln) rs2149367858
NM_004999.4(MYO6):c.897G>T (p.Glu299Asp) rs1060499799
NM_005422.4(TECTA):c.1705C>T (p.Gln569Ter) rs1946605498
NM_005422.4(TECTA):c.1756C>T (p.Arg586Ter)
NM_005422.4(TECTA):c.4857C>A (p.Cys1619Ter) rs764153521
NM_005422.4(TECTA):c.5609A>G (p.Tyr1870Cys) rs121909058
NM_005797.4(MPZL2):c.161del (p.Pro54fs)
NM_016239.4(MYO15A):c.10351-15T>G
NM_016239.4(MYO15A):c.6194del (p.Met2065fs)
NM_016239.4(MYO15A):c.6599C>A (p.Ser2200Ter)
NM_016239.4(MYO15A):c.8831del (p.Pro2944fs)
NM_016239.4(MYO15A):c.9443G>A (p.Cys3148Tyr)
NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs) rs760866131
NM_020982.4(CLDN9):c.500dup (p.Trp168fs) rs1567404609
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser) rs1060499791
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser) rs1060499792
NM_022124.6(CDH23):c.3211G>A (p.Glu1071Lys) rs2132751512
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.683A>T (p.Asp228Val) rs1060499788
NM_022124.6(CDH23):c.6965A>T (p.Asp2322Val)
NM_022124.6(CDH23):c.7826C>T (p.Pro2609Leu)
NM_022124.6(CDH23):c.8140G>T (p.Asp2714Tyr) rs2132985083
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro) rs1060499790
NM_022124.6(CDH23):c.8377C>T (p.Arg2793Trp)
NM_022772.4(EPS8L2):c.1430dup (p.Val478fs) rs758700198
NM_022772.4(EPS8L2):c.148_149insGGACA (p.Ser50fs) rs2133499883
NM_031475.3(ESPN):c.1972G>A (p.Glu658Lys)
NM_031475.3(ESPN):c.2081_2082del (p.Ser694fs) rs2148538836
NM_031475.3(ESPN):c.2496C>G (p.Tyr832Ter)
NM_080680.3(COL11A2):c.3852+1G>T
NM_138691.3(TMC1):c.1184del (p.Gln395fs) rs2118181420
NM_138691.3(TMC1):c.1532C>A (p.Pro511His) rs727503483
NM_138691.3(TMC1):c.1763+1G>T rs2118284330
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu) rs727504599
NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs) rs2141700836
NM_144672.4(OTOA):c.2991A>C (p.Glu997Asp)
NM_144672.4(OTOA):c.875A>G (p.Lys292Arg)
NM_153676.4(USH1C):c.104+5G>C rs2133927984
NM_153700.2(STRC):c.1469T>C (p.Leu490Pro)
NM_153700.2(STRC):c.2545C>T (p.Arg849Ter)
NM_182548.4(LHFPL5):c.*16+1G>A rs1445573930
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val) rs1060499810
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter) rs1060499805

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