ClinVar Miner

List of variants in gene LOXHD1 reported as likely pathogenic for Autosomal recessive nonsyndromic hearing loss 77

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Gene type:
ClinVar version:
Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00063
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His) rs187658135 0.00022
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln) rs548893604 0.00013
NM_001384474.1(LOXHD1):c.3061+1G>A rs537227442 0.00006
NM_001384474.1(LOXHD1):c.4376-2A>G rs886043616 0.00006
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu) rs763915229 0.00006
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys) rs561122654 0.00004
NM_001384474.1(LOXHD1):c.1856G>A (p.Arg619Gln) rs781769655 0.00003
NM_001384474.1(LOXHD1):c.2245-13G>A rs749554659 0.00003
NM_001384474.1(LOXHD1):c.4212+5G>A rs752553552 0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666 0.00003
NM_001384474.1(LOXHD1):c.6363C>A (p.Cys2121Ter) rs754765193 0.00003
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs) rs775267638 0.00003
NM_001384474.1(LOXHD1):c.760-2del rs770408532 0.00003
NM_001384474.1(LOXHD1):c.3727C>T (p.Arg1243Trp) rs369695848 0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A rs889110926 0.00002
NM_001384474.1(LOXHD1):c.1190G>A (p.Trp397Ter) rs1037619437 0.00001
NM_001384474.1(LOXHD1):c.1538del (p.Leu513fs) rs1568206162 0.00001
NM_001384474.1(LOXHD1):c.246-2A>G rs763062406 0.00001
NM_001384474.1(LOXHD1):c.3514+1G>A rs1463849219 0.00001
NM_001384474.1(LOXHD1):c.4376-1G>A rs1017941933 0.00001
NM_001384474.1(LOXHD1):c.4531-2A>G rs951333133 0.00001
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs) rs1598914701 0.00001
NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter) rs960741408 0.00001
NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp) rs1459136471 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_001384474.1(LOXHD1):c.5085+1G>T rs1418245706 0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg) rs780560784 0.00001
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu) rs1442825433 0.00001
NM_001384474.1(LOXHD1):c.106del (p.Glu36fs)
NM_001384474.1(LOXHD1):c.1072_1073del (p.Leu358fs) rs2038332961
NM_001384474.1(LOXHD1):c.1072dup (p.Leu358fs)
NM_001384474.1(LOXHD1):c.1217T>A (p.Leu406Ter) rs1274241367
NM_001384474.1(LOXHD1):c.1270+1G>A
NM_001384474.1(LOXHD1):c.1286del (p.Leu429fs) rs2144243196
NM_001384474.1(LOXHD1):c.130+1G>A
NM_001384474.1(LOXHD1):c.1357A>T (p.Lys453Ter) rs2511931321
NM_001384474.1(LOXHD1):c.1483A>T (p.Lys495Ter) rs2511926945
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.1678_1679del (p.Cys560fs)
NM_001384474.1(LOXHD1):c.1693G>T (p.Glu565Ter)
NM_001384474.1(LOXHD1):c.1798G>T (p.Glu600Ter) rs2511888973
NM_001384474.1(LOXHD1):c.1906del (p.Asp636fs) rs1190328421
NM_001384474.1(LOXHD1):c.1908del (p.Asp636fs) rs2144134166
NM_001384474.1(LOXHD1):c.1933C>T (p.Gln645Ter) rs2511882803
NM_001384474.1(LOXHD1):c.1971-1G>A
NM_001384474.1(LOXHD1):c.2048-2A>G
NM_001384474.1(LOXHD1):c.205G>T (p.Gly69Ter) rs945616168
NM_001384474.1(LOXHD1):c.2235_2242del (p.Asn745fs) rs2511858596
NM_001384474.1(LOXHD1):c.2244+1G>A rs1296156738
NM_001384474.1(LOXHD1):c.2364G>A (p.Trp788Ter)
NM_001384474.1(LOXHD1):c.2377C>T (p.Gln793Ter)
NM_001384474.1(LOXHD1):c.2395G>T (p.Glu799Ter) rs2511850178
NM_001384474.1(LOXHD1):c.2437+1G>A
NM_001384474.1(LOXHD1):c.246-1G>T rs2511999710
NM_001384474.1(LOXHD1):c.2519dup (p.Glu841fs)
NM_001384474.1(LOXHD1):c.2598+1G>A rs1555680544
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter) rs2037495535
NM_001384474.1(LOXHD1):c.2842del (p.Glu948fs) rs2144013371
NM_001384474.1(LOXHD1):c.3061+1G>T rs537227442
NM_001384474.1(LOXHD1):c.3166G>T (p.Glu1056Ter)
NM_001384474.1(LOXHD1):c.3186del (p.Asp1063fs)
NM_001384474.1(LOXHD1):c.3268C>T (p.Arg1090Trp)
NM_001384474.1(LOXHD1):c.3350+1G>A rs1301706601
NM_001384474.1(LOXHD1):c.3351-1G>A rs868646051
NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs) rs2143824066
NM_001384474.1(LOXHD1):c.3544A>T (p.Lys1182Ter) rs2511735560
NM_001384474.1(LOXHD1):c.3663del (p.Phe1221fs) rs2144371589
NM_001384474.1(LOXHD1):c.366C>G (p.Tyr122Ter)
NM_001384474.1(LOXHD1):c.3682del (p.Ile1228fs)
NM_001384474.1(LOXHD1):c.3781G>T (p.Glu1261Ter) rs2144361735
NM_001384474.1(LOXHD1):c.3892C>T (p.Gln1298Ter) rs1458502601
NM_001384474.1(LOXHD1):c.3913+2T>C rs901636863
NM_001384474.1(LOXHD1):c.3914-1G>A rs2036406936
NM_001384474.1(LOXHD1):c.3999C>A (p.Cys1333Ter) rs117297079
NM_001384474.1(LOXHD1):c.4005del (p.Val1336fs) rs35449699
NM_001384474.1(LOXHD1):c.4095+1G>A rs1280052681
NM_001384474.1(LOXHD1):c.4096-1G>C rs749861944
NM_001384474.1(LOXHD1):c.4129C>T (p.Arg1377Trp) rs746252931
NM_001384474.1(LOXHD1):c.4210_4211dup (p.Asp1404fs)
NM_001384474.1(LOXHD1):c.4354_4357del (p.Lys1451_Glu1452insTer) rs2511660862
NM_001384474.1(LOXHD1):c.4375+1G>T rs2036150181
NM_001384474.1(LOXHD1):c.4375+2T>C
NM_001384474.1(LOXHD1):c.4413del (p.Pro1472fs) rs1407136283
NM_001384474.1(LOXHD1):c.4582A>T (p.Lys1528Ter) rs2511614912
NM_001384474.1(LOXHD1):c.464G>A (p.Trp155Ter) rs2511996859
NM_001384474.1(LOXHD1):c.4683dup (p.Arg1562fs) rs1409994676
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter) rs2511612853
NM_001384474.1(LOXHD1):c.4740+1G>A rs2144167172
NM_001384474.1(LOXHD1):c.4747_4751delinsT (p.Thr1583fs)
NM_001384474.1(LOXHD1):c.4832_4839dup (p.Thr1614delinsAlaGlnTer)
NM_001384474.1(LOXHD1):c.486_487delinsGG (p.Ser162_Phe163delinsArgVal) rs2511996792
NM_001384474.1(LOXHD1):c.4877-1G>A rs1598909650
NM_001384474.1(LOXHD1):c.488del (p.Phe163fs) rs2511996791
NM_001384474.1(LOXHD1):c.4909A>T (p.Lys1637Ter)
NM_001384474.1(LOXHD1):c.5049_5050insT (p.Ala1684fs) rs2511598572
NM_001384474.1(LOXHD1):c.5085+1G>A rs1418245706
NM_001384474.1(LOXHD1):c.5085+2T>G rs2511598176
NM_001384474.1(LOXHD1):c.512-1G>A
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs) rs776345911
NM_001384474.1(LOXHD1):c.5383_5384insCACACAC (p.Asp1795fs) rs2511568423
NM_001384474.1(LOXHD1):c.5413C>T (p.Gln1805Ter) rs2034841317
NM_001384474.1(LOXHD1):c.5458_5459del (p.Thr1820fs) rs2511513874
NM_001384474.1(LOXHD1):c.5527A>T (p.Lys1843Ter) rs2511496811
NM_001384474.1(LOXHD1):c.5539del (p.Thr1847fs)
NM_001384474.1(LOXHD1):c.5619T>A (p.Cys1873Ter) rs2511495207
NM_001384474.1(LOXHD1):c.5655del (p.Ser1886fs)
NM_001384474.1(LOXHD1):c.5668_5669del (p.Ala1890fs) rs2511494549
NM_001384474.1(LOXHD1):c.5777dup (p.Asn1926fs)
NM_001384474.1(LOXHD1):c.5864G>A (p.Trp1955Ter)
NM_001384474.1(LOXHD1):c.5988del (p.Gln1997fs) rs2511396663
NM_001384474.1(LOXHD1):c.5989C>T (p.Gln1997Ter) rs2033273061
NM_001384474.1(LOXHD1):c.5992_5998delinsCA (p.Thr1998fs) rs2511396500
NM_001384474.1(LOXHD1):c.6050-2A>C
NM_001384474.1(LOXHD1):c.6054C>A (p.Tyr2018Ter) rs137944477
NM_001384474.1(LOXHD1):c.6071C>A (p.Thr2024Lys)
NM_001384474.1(LOXHD1):c.6071del (p.Thr2024fs) rs2032939837
NM_001384474.1(LOXHD1):c.608_610+3del rs2511978432
NM_001384474.1(LOXHD1):c.6091dup (p.Arg2031fs)
NM_001384474.1(LOXHD1):c.610+1G>A
NM_001384474.1(LOXHD1):c.6106_6107insA (p.Leu2036fs) rs2511374242
NM_001384474.1(LOXHD1):c.6128del (p.Asn2043fs)
NM_001384474.1(LOXHD1):c.613G>T (p.Glu205Ter)
NM_001384474.1(LOXHD1):c.6182+1G>T rs200375658
NM_001384474.1(LOXHD1):c.6182+2T>G
NM_001384474.1(LOXHD1):c.6221T>A (p.Leu2074Ter)
NM_001384474.1(LOXHD1):c.6272_6273del (p.Phe2091fs)
NM_001384474.1(LOXHD1):c.6342-1G>A rs2511335695
NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter) rs1434725624
NM_001384474.1(LOXHD1):c.6554_6555del (p.Thr2185fs) rs2511332481
NM_001384474.1(LOXHD1):c.6732del (p.Gly2245fs) rs2511329815
NM_001384474.1(LOXHD1):c.674T>C (p.Leu225Pro)
NM_001384474.1(LOXHD1):c.746G>A (p.Trp249Ter) rs1248889536
NM_001384474.1(LOXHD1):c.794_795del (p.Lys264_Tyr265insTer)
NM_001384474.1(LOXHD1):c.85G>T (p.Glu29Ter)
NM_001384474.1(LOXHD1):c.963T>A (p.Tyr321Ter) rs1317610566

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