ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive nonsyndromic hearing loss 77 by Fulgent Genetics, Fulgent Genetics

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.3061+1G>A rs537227442 0.00006
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.4212+1G>A rs889110926 0.00002
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.4936C>T (p.Arg1646Ter) rs960741408 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg) rs780560784 0.00001
NM_001384474.1(LOXHD1):c.1072_1073del (p.Leu358fs) rs2038332961
NM_001384474.1(LOXHD1):c.1270+1G>A
NM_001384474.1(LOXHD1):c.1678_1679del (p.Cys560fs)
NM_001384474.1(LOXHD1):c.1906del (p.Asp636fs) rs1190328421
NM_001384474.1(LOXHD1):c.1908del (p.Asp636fs) rs2144134166
NM_001384474.1(LOXHD1):c.1971-1G>A
NM_001384474.1(LOXHD1):c.2048-2A>G
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.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.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter) rs2037495535
NM_001384474.1(LOXHD1):c.3166G>T (p.Glu1056Ter)
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.366C>G (p.Tyr122Ter)
NM_001384474.1(LOXHD1):c.3781G>T (p.Glu1261Ter) rs2144361735
NM_001384474.1(LOXHD1):c.3913+2T>C rs901636863
NM_001384474.1(LOXHD1):c.3914-1G>A rs2036406936
NM_001384474.1(LOXHD1):c.4005del (p.Val1336fs) rs35449699
NM_001384474.1(LOXHD1):c.4129C>T (p.Arg1377Trp) rs746252931
NM_001384474.1(LOXHD1):c.4210_4211dup (p.Asp1404fs)
NM_001384474.1(LOXHD1):c.4375+2T>C
NM_001384474.1(LOXHD1):c.4413del (p.Pro1472fs) rs1407136283
NM_001384474.1(LOXHD1):c.4683dup (p.Arg1562fs) rs1409994676
NM_001384474.1(LOXHD1):c.4747_4751delinsT (p.Thr1583fs)
NM_001384474.1(LOXHD1):c.4832_4839dup (p.Thr1614delinsAlaGlnTer)
NM_001384474.1(LOXHD1):c.5049_5050insT (p.Ala1684fs) rs2511598572
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.5539del (p.Thr1847fs)
NM_001384474.1(LOXHD1):c.5777dup (p.Asn1926fs)
NM_001384474.1(LOXHD1):c.5989C>T (p.Gln1997Ter) rs2033273061
NM_001384474.1(LOXHD1):c.6050-2A>C
NM_001384474.1(LOXHD1):c.6054C>A (p.Tyr2018Ter) rs137944477
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.6128del (p.Asn2043fs)
NM_001384474.1(LOXHD1):c.613G>T (p.Glu205Ter)
NM_001384474.1(LOXHD1):c.6182+2T>G
NM_001384474.1(LOXHD1):c.6272_6273del (p.Phe2091fs)
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.746G>A (p.Trp249Ter) rs1248889536
NM_001384474.1(LOXHD1):c.794_795del (p.Lys264_Tyr265insTer)
NM_001384474.1(LOXHD1):c.85G>T (p.Glu29Ter)

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