ClinVar Miner

List of variants in gene LOXHD1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 46
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HGVS dbSNP
NM_144612.6(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175
NM_144612.6(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147
NM_144612.6(LOXHD1):c.177G>A (p.Thr59=) rs116413527
NM_144612.6(LOXHD1):c.1843C>T (p.Arg615Trp) rs112463030
NM_144612.6(LOXHD1):c.1944C>T (p.Ser648=) rs369039902
NM_144612.6(LOXHD1):c.1961C>T (p.Pro654Leu) rs369297699
NM_144612.6(LOXHD1):c.197C>G (p.Thr66Arg) rs199536893
NM_144612.6(LOXHD1):c.2158_2160CTT[1] (p.Leu721del) rs1555681376
NM_144612.6(LOXHD1):c.2204G>A (p.Arg735Gln) rs1393552738
NM_144612.6(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_144612.6(LOXHD1):c.231C>T (p.Leu77=) rs200306249
NM_144612.6(LOXHD1):c.2353G>A (p.Ala785Thr) rs886042940
NM_144612.6(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_144612.6(LOXHD1):c.2863G>C (p.Glu955Gln) rs548893604
NM_144612.6(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_144612.6(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521
NM_144612.6(LOXHD1):c.3061+8G>T rs764128579
NM_144612.6(LOXHD1):c.3657T>A (p.Asp1219Glu) rs397517862
NM_144612.6(LOXHD1):c.382G>C (p.Val128Leu)
NM_144612.6(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927
NM_144612.6(LOXHD1):c.3941C>T (p.Thr1314Ile) rs182125538
NM_144612.6(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337
NM_144612.6(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061
NM_144612.6(LOXHD1):c.4202C>T (p.Pro1401Leu) rs377530294
NM_144612.6(LOXHD1):c.4609T>C (p.Cys1537Arg) rs886044147
NM_144612.6(LOXHD1):c.4934_4935delinsAA (p.Ser1645Lys) rs1568133169
NM_144612.6(LOXHD1):c.4972C>T (p.Arg1658Cys) rs377416999
NM_144612.6(LOXHD1):c.5127C>T (p.Gly1709=) rs373924055
NM_144612.6(LOXHD1):c.5214-3C>T rs528236655
NM_144612.6(LOXHD1):c.5224G>A (p.Glu1742Lys) rs200242497
NM_144612.6(LOXHD1):c.5328G>A (p.Glu1776=) rs749182319
NM_144612.6(LOXHD1):c.5526C>T (p.Asn1842=)
NM_144612.6(LOXHD1):c.5581C>G (p.Gln1861Glu)
NM_144612.6(LOXHD1):c.5616C>A (p.Asn1872Lys) rs61733519
NM_144612.6(LOXHD1):c.5618C>T (p.Thr1873Met)
NM_144612.6(LOXHD1):c.5723T>A (p.Val1908Asp)
NM_144612.6(LOXHD1):c.5807C>T (p.Thr1936Met) rs538782734
NM_144612.6(LOXHD1):c.5869G>A (p.Glu1957Lys) rs373848470
NM_144612.6(LOXHD1):c.5885C>T (p.Thr1962Met) rs369043488
NM_144612.6(LOXHD1):c.5962A>G (p.Met1988Val) rs141749060
NM_144612.6(LOXHD1):c.6276C>G (p.Val2092=) rs141737883
NM_144612.6(LOXHD1):c.6330C>T (p.Ala2110=) rs886042223
NM_144612.6(LOXHD1):c.6361G>A (p.Gly2121Arg) rs943633635
NM_144612.6(LOXHD1):c.6557C>T (p.Thr2186Ile) rs779935366
NM_144612.6(LOXHD1):c.710A>G (p.Asn237Ser) rs539278802
NM_144612.6(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915

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