ClinVar Miner

List of variants in gene LOXHD1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.3463A>G (p.Arg1155Gly) rs1893566 0.75216
NM_001384474.1(LOXHD1):c.6293C>T (p.Ala2098Val) rs1377016 0.30620
NM_001384474.1(LOXHD1):c.6183-11del rs143514947 0.23567
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met) rs36086089 0.09592
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=) rs2086005 0.09206
NM_001384474.1(LOXHD1):c.5399+13G>A rs59128481 0.07068
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly) rs12606417 0.06993
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile) rs10163657 0.05881
NM_001384474.1(LOXHD1):c.6584G>A (p.Arg2195His) rs74316327 0.04745
NM_001384474.1(LOXHD1):c.4531-19C>T rs117403100 0.02599
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=) rs114082868 0.02057
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=) rs34723936 0.01692
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674 0.01368
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=) rs112463030 0.00507
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_001384474.1(LOXHD1):c.4720G>A (p.Glu1574Lys) rs78427072 0.00246
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00212
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227 0.00178
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_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.177G>A (p.Thr59=) rs116413527 0.00108
NM_001384474.1(LOXHD1):c.3673A>G (p.Ser1225Gly) rs370149278 0.00103
NM_001384474.1(LOXHD1):c.3449A>G (p.Gln1150Arg) rs201576880 0.00088
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile) rs182125538 0.00083
NM_001384474.1(LOXHD1):c.5692+12G>A rs200518261 0.00083
NM_001384474.1(LOXHD1):c.4244G>A (p.Arg1415Gln) rs374728484 0.00073
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149 0.00063
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.1746G>A (p.Gly582=) rs370933210 0.00028
NM_001384474.1(LOXHD1):c.3453C>T (p.Ser1151=) rs551949683 0.00024
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys) rs373848470 0.00022
NM_001384474.1(LOXHD1):c.4611C>T (p.Cys1537=) rs189561302 0.00021
NM_001384474.1(LOXHD1):c.6220T>C (p.Leu2074=) rs185604776 0.00018
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_001384474.1(LOXHD1):c.2655G>A (p.Glu885=) rs371763582 0.00017
NM_001384474.1(LOXHD1):c.1893C>T (p.Ser631=) rs375920647 0.00011
NM_001384474.1(LOXHD1):c.4089C>T (p.Ile1363=) rs370376314 0.00011
NM_001384474.1(LOXHD1):c.2599-10C>T rs751081260 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001384474.1(LOXHD1):c.4149G>A (p.Thr1383=) rs373657978 0.00006
NM_001384474.1(LOXHD1):c.4376-6G>A rs369463541 0.00006
NM_001384474.1(LOXHD1):c.4147A>G (p.Thr1383Ala) rs1182325987 0.00005
NM_001384474.1(LOXHD1):c.131-5T>C rs1028082247 0.00004
NM_001384474.1(LOXHD1):c.2718G>A (p.Val906=) rs765691566 0.00004
NM_001384474.1(LOXHD1):c.5661C>T (p.Tyr1887=) rs1170185905 0.00004
NM_001384474.1(LOXHD1):c.6483A>G (p.Thr2161=) rs568443351 0.00004
NM_001384474.1(LOXHD1):c.2288C>T (p.Ala763Val) rs876657858 0.00003
NM_001384474.1(LOXHD1):c.2841C>T (p.Asp947=) rs761010290 0.00003
NM_001384474.1(LOXHD1):c.1021C>T (p.Arg341Ter) rs931911802 0.00001
NM_001384474.1(LOXHD1):c.1431+9G>A rs181825231 0.00001
NM_001384474.1(LOXHD1):c.2008C>T (p.Arg670Ter) rs121918370 0.00001
NM_001384474.1(LOXHD1):c.2729C>T (p.Pro910Leu) rs534815867 0.00001
NM_001384474.1(LOXHD1):c.4818C>T (p.Ala1606=) rs976758061 0.00001
NM_001384474.1(LOXHD1):c.5739C>T (p.Asn1913=) rs756448029 0.00001
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=) rs886042223 0.00001
NM_001384474.1(LOXHD1):c.2251C>A (p.Arg751=) rs376539851
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del) rs142960762
NM_001384474.1(LOXHD1):c.2850del (p.Asp950fs)
NM_001384474.1(LOXHD1):c.3619+9G>A rs576031049
NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met) rs7244681
NM_001384474.1(LOXHD1):c.5028C>T (p.Gly1676=) rs865871778
NM_001384474.1(LOXHD1):c.5247C>T (p.Ala1749=)
NM_001384474.1(LOXHD1):c.6182+4G>A
NM_001384474.1(LOXHD1):c.759+11C>T rs755171381
NM_001384474.1(LOXHD1):c.884-4C>A

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