ClinVar Miner

List of variants in gene LOXHD1 reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_001384474.1(LOXHD1):c.4212+5G>A rs752553552 0.00003
NM_001384474.1(LOXHD1):c.760-2del rs770408532 0.00003
NM_001384474.1(LOXHD1):c.1468C>T (p.Arg490Ter) rs527536011 0.00002
NM_001384474.1(LOXHD1):c.1431+2T>C rs1456597732 0.00001
NM_001384474.1(LOXHD1):c.1810-2A>T rs1410967693 0.00001
NM_001384474.1(LOXHD1):c.246-2A>G rs763062406 0.00001
NM_001384474.1(LOXHD1):c.326+1G>A rs1215109986 0.00001
NM_001384474.1(LOXHD1):c.3514+1G>A rs1463849219 0.00001
NM_001384474.1(LOXHD1):c.4531-2A>G rs951333133 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.4989G>A (p.Trp1663Ter) rs1223508098 0.00001
NM_001384474.1(LOXHD1):c.5085+1G>T rs1418245706 0.00001
NM_001384474.1(LOXHD1):c.6050-2A>G rs1258811765 0.00001
GRCh37/hg19 18q21.1(chr18:44219579-44221999)x1
NC_000018.9:g.(?_44104661)_(44109304_?)dup
NM_001384474.1(LOXHD1):c.1134+2T>C rs1599040620
NM_001384474.1(LOXHD1):c.1135-1G>C rs2144247310
NM_001384474.1(LOXHD1):c.1271-1G>T
NM_001384474.1(LOXHD1):c.1431+1G>T
NM_001384474.1(LOXHD1):c.1432-2A>G rs2144235927
NM_001384474.1(LOXHD1):c.1475G>A (p.Trp492Ter) rs2038190712
NM_001384474.1(LOXHD1):c.1810-1G>A rs2144135103
NM_001384474.1(LOXHD1):c.1970+1G>A rs2037884594
NM_001384474.1(LOXHD1):c.1970+2T>C
NM_001384474.1(LOXHD1):c.2047+1G>A
NM_001384474.1(LOXHD1):c.2047+1G>T rs867069460
NM_001384474.1(LOXHD1):c.2244+1G>A rs1296156738
NM_001384474.1(LOXHD1):c.2244+2T>G rs1555681351
NM_001384474.1(LOXHD1):c.2437+1G>C
NM_001384474.1(LOXHD1):c.245+2T>C
NM_001384474.1(LOXHD1):c.2598+1G>A
NM_001384474.1(LOXHD1):c.2598+1G>C rs1555680544
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.3061+1G>T rs537227442
NM_001384474.1(LOXHD1):c.3062-2A>G
NM_001384474.1(LOXHD1):c.3216+1G>T rs2144002229
NM_001384474.1(LOXHD1):c.327-1G>A rs2144376621
NM_001384474.1(LOXHD1):c.327-2A>G rs2038940533
NM_001384474.1(LOXHD1):c.3281A>G (p.Asp1094Gly) rs543098936
NM_001384474.1(LOXHD1):c.3325A>T (p.Ile1109Phe)
NM_001384474.1(LOXHD1):c.3350+1G>A rs1301706601
NM_001384474.1(LOXHD1):c.3350+1G>C rs1301706601
NM_001384474.1(LOXHD1):c.3514+1G>C
NM_001384474.1(LOXHD1):c.3913+2T>A rs901636863
NM_001384474.1(LOXHD1):c.3913+2T>C
NM_001384474.1(LOXHD1):c.3914-1G>A rs2036406936
NM_001384474.1(LOXHD1):c.4095+1G>A rs1280052681
NM_001384474.1(LOXHD1):c.4213-1G>A
NM_001384474.1(LOXHD1):c.4213-2A>G rs1317094682
NM_001384474.1(LOXHD1):c.4375+1G>T rs2036150181
NM_001384474.1(LOXHD1):c.4376-1G>A
NM_001384474.1(LOXHD1):c.4531-2A>T rs951333133
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384474.1(LOXHD1):c.4740+1G>A rs2144167172
NM_001384474.1(LOXHD1):c.4877-2A>G
NM_001384474.1(LOXHD1):c.5085+2T>G
NM_001384474.1(LOXHD1):c.512-2A>C rs1201905882
NM_001384474.1(LOXHD1):c.512-2A>T
NM_001384474.1(LOXHD1):c.5272-1G>A
NM_001384474.1(LOXHD1):c.5400-2A>C
NM_001384474.1(LOXHD1):c.5518-1G>A rs2143921132
NM_001384474.1(LOXHD1):c.5518-1G>T rs2143921132
NM_001384474.1(LOXHD1):c.5692+1G>A
NM_001384474.1(LOXHD1):c.5693-1G>T
NM_001384474.1(LOXHD1):c.5693-2A>C
NM_001384474.1(LOXHD1):c.5879-1G>T rs1444945856
NM_001384474.1(LOXHD1):c.5974_5975del (p.Lys1991_Ser1992insTer) rs2033274775
NM_001384474.1(LOXHD1):c.6049+1del
NM_001384474.1(LOXHD1):c.6050-1G>A rs2143559471
NM_001384474.1(LOXHD1):c.608_610+3del
NM_001384474.1(LOXHD1):c.610+2T>A
NM_001384474.1(LOXHD1):c.611-2A>C rs1287270284
NM_001384474.1(LOXHD1):c.611-2A>T
NM_001384474.1(LOXHD1):c.6182+1G>T rs200375658
NM_001384474.1(LOXHD1):c.6183-1G>A
NM_001384474.1(LOXHD1):c.6183-2A>C
NM_001384474.1(LOXHD1):c.6183-2A>T
NM_001384474.1(LOXHD1):c.6234del (p.Ser2079fs) rs2032781418
NM_001384474.1(LOXHD1):c.6498del (p.Ala2168fs) rs2032148329
NM_001384474.1(LOXHD1):c.759+1G>C rs2038495632
NM_001384474.1(LOXHD1):c.760-1G>C rs2144294201
NM_001384474.1(LOXHD1):c.883+2T>C

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