ClinVar Miner

List of variants in gene LOXHD1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 235
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_001384474.1(LOXHD1):c.6363C>A (p.Cys2121Ter) rs754765193 0.00008
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.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666 0.00003
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs) rs775267638 0.00003
NM_001384474.1(LOXHD1):c.1468C>T (p.Arg490Ter) rs527536011 0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A rs889110926 0.00002
NM_001384474.1(LOXHD1):c.6130C>T (p.Arg2044Ter) rs1306586204 0.00002
NM_001384474.1(LOXHD1):c.757C>T (p.Gln253Ter) rs909435840 0.00002
NM_001384474.1(LOXHD1):c.1021C>T (p.Arg341Ter) rs931911802 0.00001
NM_001384474.1(LOXHD1):c.1121G>A (p.Trp374Ter) rs368299751 0.00001
NM_001384474.1(LOXHD1):c.1462A>T (p.Lys488Ter) rs1296722565 0.00001
NM_001384474.1(LOXHD1):c.1538del (p.Leu513fs) rs1568206162 0.00001
NM_001384474.1(LOXHD1):c.1554C>A (p.Tyr518Ter) rs774587517 0.00001
NM_001384474.1(LOXHD1):c.2008C>T (p.Arg670Ter) rs121918370 0.00001
NM_001384474.1(LOXHD1):c.2860G>T (p.Glu954Ter) rs2037491872 0.00001
NM_001384474.1(LOXHD1):c.3061C>T (p.Arg1021Ter) rs963520367 0.00001
NM_001384474.1(LOXHD1):c.3169C>T (p.Arg1057Ter) rs727505104 0.00001
NM_001384474.1(LOXHD1):c.3350+1G>T rs1301706601 0.00001
NM_001384474.1(LOXHD1):c.3475del (p.Asp1159fs) rs1220271750 0.00001
NM_001384474.1(LOXHD1):c.4282C>T (p.Arg1428Ter) rs932266011 0.00001
NM_001384474.1(LOXHD1):c.4299T>A (p.Tyr1433Ter) rs1467160997 0.00001
NM_001384474.1(LOXHD1):c.4476_4477insT (p.Glu1493Ter) rs763478051 0.00001
NM_001384474.1(LOXHD1):c.4741-1G>A rs1057524755 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.4989G>A (p.Trp1663Ter) rs1223508098 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_001384474.1(LOXHD1):c.5295G>A (p.Trp1765Ter) rs1364064979 0.00001
NM_001384474.1(LOXHD1):c.5963G>A (p.Trp1988Ter) rs1598827107 0.00001
NM_001384474.1(LOXHD1):c.963T>G (p.Tyr321Ter) rs1317610566 0.00001
NC_000018.10:g.46557485TCTG[1]
NC_000018.10:g.46656909_46657366del rs2144417850
NC_000018.9:g.(?_44063540)_(44065124_?)del
NC_000018.9:g.(?_44087491)_(44089788_?)del
NC_000018.9:g.(?_44121729)_(44127031_?)del
NC_000018.9:g.(?_44125270)_(44184202_?)del
NC_000018.9:g.(?_44137309)_(44140518_?)del
NC_000018.9:g.(?_44139401)_(44143198_?)del
NC_000018.9:g.(?_44143018)_(44143198_?)del
NC_000018.9:g.(?_44190729)_(44190897_?)del
NM_001384474.1(LOXHD1):c.100G>T (p.Glu34Ter)
NM_001384474.1(LOXHD1):c.1072_1073del (p.Leu358fs) rs2038332961
NM_001384474.1(LOXHD1):c.1072del (p.Pro357_Leu358insTer)
NM_001384474.1(LOXHD1):c.1077_1096del (p.Ser359fs)
NM_001384474.1(LOXHD1):c.1135-1G>A
NM_001384474.1(LOXHD1):c.1168C>T (p.Gln390Ter) rs2038226312
NM_001384474.1(LOXHD1):c.1205_1206del (p.Lys402fs) rs2144246928
NM_001384474.1(LOXHD1):c.120C>G (p.Tyr40Ter)
NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter) rs777587826
NM_001384474.1(LOXHD1):c.1236T>G (p.Tyr412Ter) rs1203046811
NM_001384474.1(LOXHD1):c.1354C>T (p.Gln452Ter) rs2038212764
NM_001384474.1(LOXHD1):c.1461T>A (p.Tyr487Ter)
NM_001384474.1(LOXHD1):c.1475G>A (p.Trp492Ter) rs2038190712
NM_001384474.1(LOXHD1):c.1476G>A (p.Trp492Ter)
NM_001384474.1(LOXHD1):c.1506G>A (p.Trp502Ter) rs1599034650
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.1568del (p.Asn523fs)
NM_001384474.1(LOXHD1):c.1576_1579del (p.Leu526fs)
NM_001384474.1(LOXHD1):c.1607_1610del (p.Val536fs)
NM_001384474.1(LOXHD1):c.1802del (p.Lys601fs)
NM_001384474.1(LOXHD1):c.1816G>T (p.Glu606Ter)
NM_001384474.1(LOXHD1):c.1843_1849del (p.Met614_Arg615insTer)
NM_001384474.1(LOXHD1):c.1883del (p.Gly628fs) rs2144134463
NM_001384474.1(LOXHD1):c.1906del (p.Asp636fs) rs1190328421
NM_001384474.1(LOXHD1):c.1908del (p.Asp636fs) rs2144134166
NM_001384474.1(LOXHD1):c.1971-2A>G
NM_001384474.1(LOXHD1):c.1973G>A (p.Trp658Ter)
NM_001384474.1(LOXHD1):c.2052del (p.Arg685fs) rs1198947482
NM_001384474.1(LOXHD1):c.2150del (p.Lys717fs)
NM_001384474.1(LOXHD1):c.2235_2242del (p.Asn745fs)
NM_001384474.1(LOXHD1):c.2289del (p.Ser764fs) rs2144060522
NM_001384474.1(LOXHD1):c.229dup (p.Leu77fs) rs2144399576
NM_001384474.1(LOXHD1):c.2303del (p.Gly768fs) rs727503146
NM_001384474.1(LOXHD1):c.2329C>T (p.Gln777Ter) rs2144060132
NM_001384474.1(LOXHD1):c.232del (p.Gln78fs) rs1248034407
NM_001384474.1(LOXHD1):c.2401G>T (p.Glu801Ter) rs770068342
NM_001384474.1(LOXHD1):c.2416G>T (p.Glu806Ter) rs1368527802
NM_001384474.1(LOXHD1):c.2431C>T (p.Gln811Ter) rs2144059286
NM_001384474.1(LOXHD1):c.246-1G>A
NM_001384474.1(LOXHD1):c.246-1G>T
NM_001384474.1(LOXHD1):c.2551_2552del (p.Ser851fs)
NM_001384474.1(LOXHD1):c.2596C>T (p.Gln866Ter) rs2144035251
NM_001384474.1(LOXHD1):c.2638_2642del (p.Leu880fs)
NM_001384474.1(LOXHD1):c.2641G>A (p.Gly881Arg)
NM_001384474.1(LOXHD1):c.2645_2652del (p.His882fs)
NM_001384474.1(LOXHD1):c.2667del (p.Ser890fs) rs2037500230
NM_001384474.1(LOXHD1):c.2691G>A (p.Trp897Ter) rs2144015428
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2713G>T (p.Glu905Ter)
NM_001384474.1(LOXHD1):c.2737G>T (p.Glu913Ter)
NM_001384474.1(LOXHD1):c.2767del (p.Leu923fs)
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter) rs2037495535
NM_001384474.1(LOXHD1):c.2815A>T (p.Lys939Ter)
NM_001384474.1(LOXHD1):c.2863G>T (p.Glu955Ter) rs548893604
NM_001384474.1(LOXHD1):c.2870C>A (p.Ser957Ter) rs1440105492
NM_001384474.1(LOXHD1):c.2879C>A (p.Ser960Ter) rs1290539447
NM_001384474.1(LOXHD1):c.2879C>G (p.Ser960Ter)
NM_001384474.1(LOXHD1):c.2913dup (p.Glu972fs) rs974766727
NM_001384474.1(LOXHD1):c.2977G>T (p.Glu993Ter)
NM_001384474.1(LOXHD1):c.3053del (p.Gly1018fs)
NM_001384474.1(LOXHD1):c.3061+1G>C
NM_001384474.1(LOXHD1):c.3072T>A (p.Tyr1024Ter)
NM_001384474.1(LOXHD1):c.3079C>T (p.Gln1027Ter)
NM_001384474.1(LOXHD1):c.3094_3095insT (p.Asn1032fs) rs2144003933
NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter) rs1555679863
NM_001384474.1(LOXHD1):c.3182del (p.Lys1061fs)
NM_001384474.1(LOXHD1):c.3247del (p.Leu1083fs) rs2143975906
NM_001384474.1(LOXHD1):c.3330_3333del (p.Thr1110_Asp1111insTer) rs2143974313
NM_001384474.1(LOXHD1):c.3351-1G>A rs868646051
NM_001384474.1(LOXHD1):c.3351-1G>C rs868646051
NM_001384474.1(LOXHD1):c.3375G>A (p.Trp1125Ter)
NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs) rs2143824066
NM_001384474.1(LOXHD1):c.3419dup (p.Leu1140fs)
NM_001384474.1(LOXHD1):c.3505G>T (p.Glu1169Ter) rs2143821653
NM_001384474.1(LOXHD1):c.3519del (p.Lys1173fs)
NM_001384474.1(LOXHD1):c.3521_3522delinsGA (p.Ser1174Ter)
NM_001384474.1(LOXHD1):c.3549_3550del (p.Gly1184_Val1185insTer)
NM_001384474.1(LOXHD1):c.3570_3571insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGAATGCGGGC (p.Thr1191fs) rs2144401197
NM_001384474.1(LOXHD1):c.3573del (p.Asp1192fs) rs2144401070
NM_001384474.1(LOXHD1):c.3584del (p.Val1195fs)
NM_001384474.1(LOXHD1):c.3619G>T (p.Gly1207Ter)
NM_001384474.1(LOXHD1):c.3748+1G>A
NM_001384474.1(LOXHD1):c.3748+1G>C rs2144370278
NM_001384474.1(LOXHD1):c.3748+1_3748+3del
NM_001384474.1(LOXHD1):c.3765G>A (p.Trp1255Ter)
NM_001384474.1(LOXHD1):c.3781G>T (p.Glu1261Ter) rs2144361735
NM_001384474.1(LOXHD1):c.3847G>T (p.Glu1283Ter) rs373541883
NM_001384474.1(LOXHD1):c.3854_3857dup (p.Ser1287fs)
NM_001384474.1(LOXHD1):c.3916_3922del (p.Val1306fs) rs1419749403
NM_001384474.1(LOXHD1):c.3924C>A (p.Tyr1308Ter) rs184966970
NM_001384474.1(LOXHD1):c.3934del (p.Leu1312fs)
NM_001384474.1(LOXHD1):c.4005del (p.Val1336fs) rs35449699
NM_001384474.1(LOXHD1):c.4048C>T (p.Gln1350Ter)
NM_001384474.1(LOXHD1):c.4099G>T (p.Glu1367Ter) rs373937326
NM_001384474.1(LOXHD1):c.4126dup (p.Ile1376fs) rs2144280231
NM_001384474.1(LOXHD1):c.4222_4223insGCTTCACCGGCGCAGTCATTCTCATAATCGCCCACGGA (p.Thr1408fs) rs2144267356
NM_001384474.1(LOXHD1):c.4239C>A (p.Cys1413Ter)
NM_001384474.1(LOXHD1):c.423_427del (p.Asn141fs) rs1423265088
NM_001384474.1(LOXHD1):c.4247G>A (p.Trp1416Ter) rs2036157162
NM_001384474.1(LOXHD1):c.4345del (p.Val1449fs)
NM_001384474.1(LOXHD1):c.4386C>G (p.Tyr1462Ter) rs2144221933
NM_001384474.1(LOXHD1):c.4393C>T (p.Gln1465Ter)
NM_001384474.1(LOXHD1):c.4413del (p.Pro1472fs) rs1407136283
NM_001384474.1(LOXHD1):c.4426del (p.Thr1476fs)
NM_001384474.1(LOXHD1):c.4477G>T (p.Glu1493Ter) rs1166673793
NM_001384474.1(LOXHD1):c.4477dup (p.Glu1493fs)
NM_001384474.1(LOXHD1):c.4480_4481dup (p.Tyr1495fs) rs2144220255
NM_001384474.1(LOXHD1):c.4529del (p.Thr1510fs) rs2144219491
NM_001384474.1(LOXHD1):c.4607G>A (p.Trp1536Ter)
NM_001384474.1(LOXHD1):c.460del (p.Gln154fs)
NM_001384474.1(LOXHD1):c.4611C>A (p.Cys1537Ter)
NM_001384474.1(LOXHD1):c.4627del (p.Glu1543fs) rs2144169642
NM_001384474.1(LOXHD1):c.465G>A (p.Trp155Ter)
NM_001384474.1(LOXHD1):c.4663G>T (p.Glu1555Ter) rs1164686618
NM_001384474.1(LOXHD1):c.4683dup (p.Arg1562fs) rs1409994676
NM_001384474.1(LOXHD1):c.469dup (p.Arg157fs) rs1290471450
NM_001384474.1(LOXHD1):c.46del (p.Leu16fs) rs1599083635
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384474.1(LOXHD1):c.4721del (p.Glu1574fs)
NM_001384474.1(LOXHD1):c.4843G>A (p.Gly1615Arg) rs768835732
NM_001384474.1(LOXHD1):c.4887C>A (p.Tyr1629Ter) rs2144138527
NM_001384474.1(LOXHD1):c.488del (p.Phe163fs)
NM_001384474.1(LOXHD1):c.4921del (p.Ala1641fs) rs1598909510
NM_001384474.1(LOXHD1):c.4960del (p.Glu1654fs)
NM_001384474.1(LOXHD1):c.5023del (p.Arg1675fs) rs770258999
NM_001384474.1(LOXHD1):c.5049_5050insT (p.Ala1684fs)
NM_001384474.1(LOXHD1):c.5066del (p.Gly1689fs)
NM_001384474.1(LOXHD1):c.5277del (p.Tyr1760fs)
NM_001384474.1(LOXHD1):c.5294G>A (p.Trp1765Ter) rs1053524259
NM_001384474.1(LOXHD1):c.5295_5296insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGACGGTGTGG (p.Thr1766delinsAlaGlyArgGlyGlySerArgLeuTer)
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs) rs776345911
NM_001384474.1(LOXHD1):c.5346_5347del (p.Tyr1783fs)
NM_001384474.1(LOXHD1):c.5391_5392del (p.Lys1798fs)
NM_001384474.1(LOXHD1):c.5393_5394del (p.Lys1798fs) rs2144083830
NM_001384474.1(LOXHD1):c.5437dup (p.Ile1813fs) rs2143957245
NM_001384474.1(LOXHD1):c.5498_5499del (p.Pro1833fs)
NM_001384474.1(LOXHD1):c.5500G>T (p.Glu1834Ter)
NM_001384474.1(LOXHD1):c.5562C>A (p.Tyr1854Ter)
NM_001384474.1(LOXHD1):c.5574G>A (p.Trp1858Ter)
NM_001384474.1(LOXHD1):c.5574_5577del (p.Trp1858fs) rs2143919227
NM_001384474.1(LOXHD1):c.5613_5614del (p.Glu1871fs) rs2143918072
NM_001384474.1(LOXHD1):c.5674A>T (p.Lys1892Ter) rs2143916424
NM_001384474.1(LOXHD1):c.5751del (p.Thr1918fs)
NM_001384474.1(LOXHD1):c.5764A>T (p.Lys1922Ter) rs2143887823
NM_001384474.1(LOXHD1):c.5767C>T (p.Gln1923Ter) rs377368588
NM_001384474.1(LOXHD1):c.5769_5775del (p.Ser1924fs)
NM_001384474.1(LOXHD1):c.5781G>A (p.Trp1927Ter)
NM_001384474.1(LOXHD1):c.57C>A (p.Tyr19Ter)
NM_001384474.1(LOXHD1):c.57C>G (p.Tyr19Ter)
NM_001384474.1(LOXHD1):c.5840del (p.Gly1947fs) rs2034533882
NM_001384474.1(LOXHD1):c.5863del (p.Trp1955fs)
NM_001384474.1(LOXHD1):c.5865G>A (p.Trp1955Ter)
NM_001384474.1(LOXHD1):c.5907T>A (p.Tyr1969Ter) rs1598827506
NM_001384474.1(LOXHD1):c.5921del (p.Asp1974fs)
NM_001384474.1(LOXHD1):c.5974_5975del (p.Lys1991_Ser1992insTer) rs2033274775
NM_001384474.1(LOXHD1):c.5989C>T (p.Gln1997Ter) rs2033273061
NM_001384474.1(LOXHD1):c.6054C>A (p.Tyr2018Ter)
NM_001384474.1(LOXHD1):c.6054C>G (p.Tyr2018Ter) rs137944477
NM_001384474.1(LOXHD1):c.6074del (p.Gly2025fs) rs1442485603
NM_001384474.1(LOXHD1):c.6080dup (p.Gly2028fs) rs878853231
NM_001384474.1(LOXHD1):c.6083del (p.Gly2028fs)
NM_001384474.1(LOXHD1):c.6105G>A (p.Trp2035Ter)
NM_001384474.1(LOXHD1):c.6155del (p.Asn2052fs) rs2143555720
NM_001384474.1(LOXHD1):c.6187del (p.Thr2063fs)
NM_001384474.1(LOXHD1):c.631G>T (p.Glu211Ter)
NM_001384474.1(LOXHD1):c.6341+2T>A
NM_001384474.1(LOXHD1):c.6357del (p.Cys2119fs) rs2143430597
NM_001384474.1(LOXHD1):c.6373dup (p.Leu2125fs)
NM_001384474.1(LOXHD1):c.6404del (p.Phe2135fs) rs2032164364
NM_001384474.1(LOXHD1):c.6425_6428del (p.Glu2142fs)
NM_001384474.1(LOXHD1):c.6427_6428del (p.Ser2143fs) rs1478469981
NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter) rs1434725624
NM_001384474.1(LOXHD1):c.6508_6515del (p.Thr2170fs) rs1568061304
NM_001384474.1(LOXHD1):c.6541del (p.Ala2181fs) rs2143422217
NM_001384474.1(LOXHD1):c.6554_6555del (p.Thr2185fs)
NM_001384474.1(LOXHD1):c.674_683del (p.Leu225fs) rs2144311846
NM_001384474.1(LOXHD1):c.734dup (p.Ser246fs) rs1468257550
NM_001384474.1(LOXHD1):c.740del (p.Ala247fs)
NM_001384474.1(LOXHD1):c.746G>A (p.Trp249Ter) rs1248889536
NM_001384474.1(LOXHD1):c.752_756del (p.Leu251fs) rs2144311662
NM_001384474.1(LOXHD1):c.788_794del (p.Arg263fs)
NM_001384474.1(LOXHD1):c.870del (p.Ala291fs)
NM_001384474.1(LOXHD1):c.888del (p.Thr297fs) rs2038338161
NM_001384474.1(LOXHD1):c.889dup (p.Thr297fs)
NM_001384474.1(LOXHD1):c.894T>G (p.Tyr298Ter) rs886043441
NM_001384474.1(LOXHD1):c.917_926del (p.Asp306fs)
NM_001384474.1(LOXHD1):c.919del (p.Val307fs) rs2144284524
NM_001384474.1(LOXHD1):c.970A>T (p.Arg324Ter)
NM_001384474.1(LOXHD1):c.978del (p.Asn326fs) rs2144283917
NM_001384474.1(LOXHD1):c.994del (p.Ile332fs)
NM_144612.6(LOXHD1):c.[4480C>T];[4714C>T]

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