ClinVar Miner

List of variants in gene LOXHD1 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_144612.6(LOXHD1):c.1028G>A (p.Arg343His) rs183531840
NM_144612.6(LOXHD1):c.1071C>T (p.Pro357=) rs1391986865
NM_144612.6(LOXHD1):c.1313A>G (p.Lys438Arg) rs186138859
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_144612.6(LOXHD1):c.1654+10G>A rs1200519632
NM_144612.6(LOXHD1):c.177G>A (p.Thr59=) rs116413527
NM_144612.6(LOXHD1):c.1815C>T (p.Asp605=) rs201388780
NM_144612.6(LOXHD1):c.1843C>A (p.Arg615=) rs112463030
NM_144612.6(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807
NM_144612.6(LOXHD1):c.2027A>G (p.Asp676Gly) rs16978578
NM_144612.6(LOXHD1):c.2037G>A (p.Ala679=) rs201226222
NM_144612.6(LOXHD1):c.2406G>A (p.Leu802=) rs1305236679
NM_144612.6(LOXHD1):c.2448T>C (p.Tyr816=) rs1555680579
NM_144612.6(LOXHD1):c.2664G>A (p.Gly888=) rs773487745
NM_144612.6(LOXHD1):c.2871G>A (p.Ser957=) rs181591912
NM_144612.6(LOXHD1):c.2916_2924AGAGGAGGA[1] (p.Glu976_Glu978del) rs765944082
NM_144612.6(LOXHD1):c.3350+92G>A rs139052361
NM_144612.6(LOXHD1):c.3619+9G>A rs576031049
NM_144612.6(LOXHD1):c.3999C>T (p.Cys1333=) rs117297079
NM_144612.6(LOXHD1):c.4531-19C>T rs117403100
NM_144612.6(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498
NM_144612.6(LOXHD1):c.4584G>A (p.Lys1528=) rs528605609
NM_144612.6(LOXHD1):c.4635G>A (p.Val1545=) rs531191015
NM_144612.6(LOXHD1):c.4860C>T (p.Tyr1620=) rs982841436
NM_144612.6(LOXHD1):c.4962G>A (p.Glu1654=) rs1434313029
NM_144612.6(LOXHD1):c.5023C>T (p.Arg1675Cys) rs201060702
NM_144612.6(LOXHD1):c.5085+1014G>A rs114014042
NM_144612.6(LOXHD1):c.5085+74G>A rs188666577
NM_144612.6(LOXHD1):c.512-5C>T rs1555686876
NM_144612.6(LOXHD1):c.5213+6T>C rs374607583
NM_144612.6(LOXHD1):c.5214-3C>T rs528236655
NM_144612.6(LOXHD1):c.5503C>T (p.Leu1835=) rs202043044
NM_144612.6(LOXHD1):c.5616C>A (p.Asn1872Lys) rs61733519
NM_144612.6(LOXHD1):c.5667G>A (p.Lys1889=) rs201366522
NM_144612.6(LOXHD1):c.5913C>T (p.Asn1971=) rs146200756
NM_144612.6(LOXHD1):c.6066C>T (p.His2022=) rs753440039
NM_144612.6(LOXHD1):c.6147C>T (p.Tyr2049=) rs374858340
NM_144612.6(LOXHD1):c.6465C>T (p.Arg2155=) rs1057521570
NM_144612.6(LOXHD1):c.6555C>T (p.Ala2185=) rs189873733
NM_144612.6(LOXHD1):c.717C>T (p.Gly239=) rs1555686141
NM_144612.6(LOXHD1):c.883+56C>T rs115299327

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