ClinVar Miner

List of variants studied for nonsyndromic genetic hearing loss by Revvity Omics, Revvity

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn) rs189910531 0.00084
NM_012188.5(FOXI1):c.1018C>G (p.Pro340Ala) rs141924917 0.00082
NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu) rs553561553 0.00077
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn) rs201415651 0.00051
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln) rs200559738 0.00037
NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp) rs529894952 0.00036
NM_005797.4(MPZL2):c.544C>T (p.Arg182Ter) rs200462584 0.00022
NM_017433.5(MYO3A):c.1463G>A (p.Gly488Glu) rs145970949 0.00022
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001292063.2(OTOG):c.6181G>A (p.Val2061Met) rs748497956 0.00018
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_001384474.1(LOXHD1):c.2036C>T (p.Ala679Val) rs370779024 0.00017
NM_004700.4(KCNQ4):c.1232G>A (p.Arg411His) rs373727071 0.00016
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_001378609.3(OTOGL):c.5350G>A (p.Val1784Met) rs571909899 0.00015
NM_016239.4(MYO15A):c.484C>T (p.Arg162Cys) rs546203218 0.00015
NM_017433.5(MYO3A):c.3398+3A>G rs373758358 0.00015
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_001256317.3(TMPRSS3):c.1126G>A (p.Gly376Ser) rs371448615 0.00011
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001042517.2(DIAPH3):c.2121A>C (p.Lys707Asn) rs776010269 0.00006
NM_001292063.2(OTOG):c.5185G>A (p.Gly1729Arg) rs368666159 0.00006
NM_001378609.3(OTOGL):c.3434C>T (p.Ala1145Val) rs374368341 0.00006
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250 0.00006
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595 0.00005
NM_001031679.3(MSRB3):c.77-2A>G rs145704693 0.00004
NM_001378609.3(OTOGL):c.3213+1G>A rs370730786 0.00004
NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala) rs138232575 0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00004
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs) rs775267638 0.00003
NM_001292063.2(OTOG):c.8520T>A (p.Asn2840Lys) rs754033112 0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A rs889110926 0.00002
NM_004447.6(EPS8):c.205-8A>G rs180899529 0.00002
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) rs748868741 0.00002
NM_016239.4(MYO15A):c.4038+3A>G rs564616200 0.00002
NM_001038603.3(MARVELD2):c.1147-2A>G rs763062791 0.00001
NM_001145308.5(LRTOMT):c.172C>T (p.Arg58Ter) rs1298804148 0.00001
NM_001292063.2(OTOG):c.3682+1G>A rs554063575 0.00001
NM_001292063.2(OTOG):c.6721del (p.Asp2241fs) rs1478013002 0.00001
NM_001378609.3(OTOGL):c.2391-2A>G rs374272301 0.00001
NM_001384474.1(LOXHD1):c.4531-2A>G rs951333133 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_004447.6(EPS8):c.2104C>T (p.Arg702Trp) rs201426875 0.00001
NM_004700.4(KCNQ4):c.1208C>T (p.Pro403Leu) rs887762794 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) rs760980785 0.00001
NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter) rs768257384 0.00001
NM_016239.4(MYO15A):c.9400C>T (p.Arg3134Ter) rs1330631412 0.00001
NM_017433.5(MYO3A):c.2972G>A (p.Arg991Gln) rs764099857 0.00001
NM_017433.5(MYO3A):c.3003del (p.Tyr1002fs) rs746055369 0.00001
NM_139319.3(SLC17A8):c.1321A>G (p.Ile441Val) rs1168855290 0.00001
NM_153700.2(STRC):c.4510del (p.Glu1504fs) rs759816064 0.00001
NC_000011.10:g.17634839_17634845dup rs1295062471
NM_001001331.4(ATP2B2):c.1046A>G (p.Lys349Arg)
NM_001031679.3(MSRB3):c.-147T>G rs949229098
NM_001038603.3(MARVELD2):c.1554+286T>C
NM_001039141.3(TRIOBP):c.2293C>A (p.Gln765Lys)
NM_001039141.3(TRIOBP):c.2516C>G (p.Thr839Ser)
NM_001039141.3(TRIOBP):c.2695C>G (p.Arg899Gly)
NM_001039141.3(TRIOBP):c.4280G>A (p.Trp1427Ter) rs1329127252
NM_001039141.3(TRIOBP):c.4538C>T (p.Thr1513Met)
NM_001039141.3(TRIOBP):c.5519G>T (p.Arg1840Leu)
NM_001039141.3(TRIOBP):c.706C>T (p.His236Tyr)
NM_001039876.3(SYNE4):c.458G>A (p.Arg153His)
NM_001042517.2(DIAPH3):c.3142C>T (p.Arg1048Cys)
NM_001042517.2(DIAPH3):c.3365A>G (p.Asn1122Ser)
NM_001042517.2(DIAPH3):c.598C>T (p.Arg200Ter) rs781626494
NM_001127453.2(GSDME):c.1441C>A (p.Leu481Ile)
NM_001127453.2(GSDME):c.212-1G>A rs1790597003
NM_001127453.2(GSDME):c.725G>A (p.Gly242Asp)
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs) rs387906221
NM_001145308.5(LRTOMT):c.179T>C (p.Leu60Pro)
NM_001145308.5(LRTOMT):c.614_617dup (p.Ser207fs) rs797044907
NM_001145319.2(PLS1):c.557dup (p.Leu187fs)
NM_001199799.2(ILDR1):c.1180del (p.Glu394fs)
NM_001199799.2(ILDR1):c.1358G>A (p.Arg453Gln)
NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter) rs387907017
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001292063.2(OTOG):c.1410_1411del (p.Tyr471fs) rs2134009776
NM_001292063.2(OTOG):c.2119dup (p.Glu707fs) rs778222536
NM_001292063.2(OTOG):c.4130G>A (p.Arg1377His)
NM_001292063.2(OTOG):c.4261C>T (p.Arg1421Trp)
NM_001292063.2(OTOG):c.4309C>T (p.Gln1437Ter) rs1853463147
NM_001292063.2(OTOG):c.4380del (p.Thr1461fs) rs2134088808
NM_001292063.2(OTOG):c.5281_5284dup (p.Ser1762Ter) rs2134090994
NM_001292063.2(OTOG):c.6068del (p.Gly2023fs) rs1416960576
NM_001304438.2(TMEM132E):c.1705G>A (p.Glu569Lys)
NM_001371333.1(DIABLO):c.234_235del (p.Ser79fs)
NM_001371333.1(DIABLO):c.605G>A (p.Arg202Gln)
NM_001376256.1(CRYM):c.421A>G (p.Ile141Val)
NM_001378609.3(OTOGL):c.1694A>G (p.Gln565Arg)
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val) rs1277996676
NM_001378609.3(OTOGL):c.5211C>A (p.Cys1737Ter) rs2137943672
NM_001378609.3(OTOGL):c.6064G>T (p.Glu2022Ter) rs2138034575
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
NM_001378609.3(OTOGL):c.6235T>C (p.Cys2079Arg)
NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter) rs777587826
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.182C>T (p.Ala61Val)
NM_001384474.1(LOXHD1):c.2219C>T (p.Thr740Ile)
NM_001384474.1(LOXHD1):c.2598+1G>A
NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs) rs2143824066
NM_001384474.1(LOXHD1):c.5003G>A (p.Arg1668Gln)
NM_001384474.1(LOXHD1):c.5985C>G (p.Asp1995Glu)
NM_001384474.1(LOXHD1):c.6743C>T (p.Thr2248Ile) rs779935366
NM_002160.4(TNC):c.1004G>C (p.Gly335Ala)
NM_002160.4(TNC):c.1622G>A (p.Arg541His)
NM_002160.4(TNC):c.5692G>A (p.Val1898Ile)
NM_002160.4(TNC):c.6527A>G (p.Glu2176Gly)
NM_002906.4(RDX):c.1141C>T (p.Arg381Ter) rs1308348441
NM_004568.6(SERPINB6):c.3G>C (p.Met1Ile) rs1225963332
NM_004700.4(KCNQ4):c.1859T>A (p.Val620Asp)
NM_004700.4(KCNQ4):c.364C>T (p.Gln122Ter)
NM_012188.5(FOXI1):c.80A>C (p.Glu27Ala)
NM_016239.4(MYO15A):c.10006G>A (p.Glu3336Lys)
NM_016239.4(MYO15A):c.10508G>A (p.Arg3503His)
NM_016239.4(MYO15A):c.2766G>A (p.Val922=)
NM_016239.4(MYO15A):c.373_374del (p.Arg125fs) rs878853239
NM_016239.4(MYO15A):c.5001del (p.Gln1669fs) rs2142326062
NM_016239.4(MYO15A):c.8771G>A (p.Arg2924His)
NM_016366.3(CABP2):c.482del (p.Phe161fs) rs368437370
NM_017433.5(MYO3A):c.115T>C (p.Leu39=)
NM_017433.5(MYO3A):c.4587-1G>A rs1311980539
NM_018429.3(BDP1):c.5888C>T (p.Pro1963Leu)
NM_033641.4(COL4A6):c.2506G>A (p.Gly836Ser)
NM_033641.4(COL4A6):c.628G>C (p.Gly210Arg)
NM_033641.4(COL4A6):c.74C>T (p.Ser25Phe)
NM_133261.3(GIPC3):c.103C>G (p.Pro35Ala)
NM_144672.4(OTOA):c.1881-2A>G rs2141716542
NM_147196.3(TMIE):c.148G>T (p.Val50Leu) rs567795032
NM_153700.2(STRC):c.3958G>T (p.Glu1320Ter) rs1410072763
NM_153700.2(STRC):c.4701+1G>A rs199839039
NM_177398.4(LMX1A):c.874G>A (p.Ala292Thr)
NM_182548.4(LHFPL5):c.348C>G (p.Ser116Arg)
NM_194248.3(OTOF):c.1538A>G (p.His513Arg)
NM_194248.3(OTOF):c.1962del (p.Arg656fs)
NM_194248.3(OTOF):c.2256G>A (p.Glu752=)
NM_194248.3(OTOF):c.3464G>A (p.Arg1155Gln)
NM_194248.3(OTOF):c.5864G>A (p.Arg1955His)
NM_194248.3(OTOF):c.658T>A (p.Ser220Thr)
NM_198999.3(SLC26A5):c.1936T>C (p.Phe646Leu)

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