ClinVar Miner

List of variants reported as pathogenic for auditory system disease by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 135
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HGVS dbSNP
NC_012920.1:m.3243A>G rs199474657
NM_000082.3(ERCC8):c.1042-2A>G rs372237310
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824
NM_000091.5(COL4A3):c.2371C>T rs1060499654
NM_000092.5(COL4A4):c.2906C>G rs35138315
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901
NM_000124.4(ERCC6):c.2830-2A>G rs373227647
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000260.3(MYO7A):c.1969C>T rs878853236
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026
NM_000441.1(SLC26A4):c.578C>T rs111033348
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001354689.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_001354689.3(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_001374258.1(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) rs781838938
NM_001692.4(ATP6V1B1):c.1248+1G>C rs1553420702
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004895.4(NLRP3):c.1064T>C (p.Leu355Pro) rs28937896
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_015120.4(ALMS1):c.358C>T (p.Gln120Ter) rs751804613
NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter) rs765468034
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) rs759523751
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) rs200220845
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270
NM_022124.6(CDH23):c.6050-9G>A rs367928692
NM_023073.3(CPLANE1):c.7400+1G>A rs367543062
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) rs747622607
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762
NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_144612.6(LOXHD1):c.4099G>T (p.Glu1367Ter) rs373937326
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144612.6(LOXHD1):c.4714C>T rs75949023
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370
NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter) rs397508097
NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp) rs199472795
NM_181798.1(KCNQ1):c.311G>A (p.Arg104His) rs199472709
NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser) rs120074193
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2168-2A>G rs993185407
NM_206933.3(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724
NM_206933.3(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910
NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045
NM_206933.4(USH2A):c.12067-2A>G rs397517978
NM_206933.4(USH2A):c.1841-2A>G rs397518003
NM_206933.4(USH2A):c.8559-2A>G rs397518039
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272
m.3271T>C rs199474658

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