ClinVar Miner

List of variants in gene LOXHD1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=) rs117297079 0.00657
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498 0.00404
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=) rs189873733 0.00308
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys) rs201060702 0.00149
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_001384474.1(LOXHD1):c.3426G>A (p.Val1142=) rs200068167 0.00130
NM_001145472.3(LOXHD1):c.3340G>A (p.Gly1114Arg) rs142931455 0.00112
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_001384474.1(LOXHD1):c.6099C>T (p.Asn2033=) rs146200756 0.00101
NM_001384474.1(LOXHD1):c.3449A>G (p.Gln1150Arg) rs201576880 0.00088
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_001384474.1(LOXHD1):c.5237T>C (p.Leu1746Pro) rs372241056 0.00041
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915 0.00041
NM_001384474.1(LOXHD1):c.2100G>A (p.Thr700=) rs367826075 0.00030
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=) rs200306249 0.00026
NM_001384474.1(LOXHD1):c.1717G>A (p.Val573Ile) rs188554662 0.00025
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His) rs187658135 0.00022
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys) rs373848470 0.00022
NM_001384474.1(LOXHD1):c.2943G>A (p.Pro981=) rs374083353 0.00019
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=) rs199645176 0.00018
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.5584C>T (p.Arg1862Trp) rs201994383 0.00013
NM_001384474.1(LOXHD1):c.1893C>T (p.Ser631=) rs375920647 0.00011
NM_001384474.1(LOXHD1):c.3939C>T (p.Tyr1313=) rs562679090 0.00010
NM_001384474.1(LOXHD1):c.6562C>T (p.Arg2188Trp) rs771007568 0.00010
NM_001384474.1(LOXHD1):c.4149G>A (p.Thr1383=) rs373657978 0.00006
NM_001384474.1(LOXHD1):c.4375+7G>A rs763847381 0.00004
NM_001384474.1(LOXHD1):c.4428G>A (p.Thr1476=) rs577112286 0.00004
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.1209G>A (p.Ala403=) rs548430409 0.00002
NM_001384474.1(LOXHD1):c.1468C>T (p.Arg490Ter) rs527536011 0.00002
NM_001384474.1(LOXHD1):c.409C>T (p.Arg137Cys) rs369244277 0.00002
NM_001384474.1(LOXHD1):c.2770C>A (p.Arg924=) rs886053832 0.00001
NM_001384474.1(LOXHD1):c.51C>T (p.Ala17=) rs1454767391 0.00001
GRCh37/hg19 18q21.1(chr18:44219579-44221999)x1
NM_001384474.1(LOXHD1):c.126C>T (p.Ala42=)
NM_001384474.1(LOXHD1):c.1502G>T (p.Gly501Val)
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.1810-6C>A rs199804946
NM_001384474.1(LOXHD1):c.1951G>C (p.Val651Leu) rs769377709
NM_001384474.1(LOXHD1):c.1971-2A>G
NM_001384474.1(LOXHD1):c.2686G>A (p.Val896Met)
NM_001384474.1(LOXHD1):c.2711G>A (p.Arg904Gln)
NM_001384474.1(LOXHD1):c.3689C>G (p.Thr1230Arg)
NM_001384474.1(LOXHD1):c.369G>A (p.Leu123=) rs2144376516
NM_001384474.1(LOXHD1):c.3898A>G (p.Arg1300Gly)
NM_001384474.1(LOXHD1):c.4777C>G (p.Pro1593Ala)
NM_001384474.1(LOXHD1):c.5584C>A (p.Arg1862=) rs201994383
NM_001384474.1(LOXHD1):c.6763T>C (p.Trp2255Arg)

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