ClinVar Miner

List of variants in gene LOXHD1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu) rs377368588 0.00137
NM_001384474.1(LOXHD1):c.1961C>T (p.Pro654Leu) rs369297699 0.00133
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175 0.00125
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=) rs116413527 0.00108
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile) rs182125538 0.00083
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys) rs200242497 0.00056
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915 0.00041
NM_001384474.1(LOXHD1):c.197C>G (p.Thr66Arg) rs199536893 0.00038
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061 0.00032
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=) rs200306249 0.00026
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys) rs373848470 0.00022
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=) rs369039902 0.00021
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_001384474.1(LOXHD1):c.5993C>T (p.Thr1998Met) rs538782734 0.00017
NM_001384474.1(LOXHD1):c.4202C>T (p.Pro1401Leu) rs377530294 0.00016
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=) rs141737883 0.00016
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=) rs749182319 0.00009
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln) rs548893604 0.00008
NM_001384474.1(LOXHD1):c.2204G>A (p.Arg735Gln) rs1393552738 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001384474.1(LOXHD1):c.5804C>T (p.Thr1935Met) rs377485179 0.00006
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 0.00005
NM_001384474.1(LOXHD1):c.3061+8G>T rs764128579 0.00004
NM_001384474.1(LOXHD1):c.4609T>C (p.Cys1537Arg) rs886044147 0.00003
NM_001384474.1(LOXHD1):c.4972C>T (p.Arg1658Cys) rs377416999 0.00003
NM_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met) rs369043488 0.00003
NM_001384474.1(LOXHD1):c.6148A>G (p.Met2050Val) rs141749060 0.00003
NM_001384474.1(LOXHD1):c.6547G>A (p.Gly2183Arg) rs943633635 0.00002
NM_001384474.1(LOXHD1):c.2353G>A (p.Ala785Thr) rs886042940 0.00001
NM_001384474.1(LOXHD1):c.3657T>A (p.Asp1219Glu) rs397517862 0.00001
NM_001384474.1(LOXHD1):c.382G>C (p.Val128Leu) rs775431645 0.00001
NM_001384474.1(LOXHD1):c.5909T>A (p.Val1970Asp) rs982069910 0.00001
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=) rs886042223 0.00001
NM_001384474.1(LOXHD1):c.1843C>T (p.Arg615Trp) rs112463030
NM_001384474.1(LOXHD1):c.2158CTT[1] (p.Leu721del) rs1555681376
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001384474.1(LOXHD1):c.4934_4935delinsAA (p.Ser1645Lys) rs1568133169
NM_001384474.1(LOXHD1):c.5712C>T (p.Asn1904=) rs746023380
NM_001384474.1(LOXHD1):c.6743C>T (p.Thr2248Ile) rs779935366
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser) rs539278802

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