ClinVar Miner

List of variants in gene LOXHD1 reported as uncertain significance by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 113
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HGVS dbSNP
NM_001173129.1(LOXHD1):c.*18G>T rs727504587
NM_144612.6(LOXHD1):c.*4G>A rs876657856
NM_144612.6(LOXHD1):c.1061T>A (p.Leu354His) rs727503150
NM_144612.6(LOXHD1):c.130+4C>A
NM_144612.6(LOXHD1):c.131-11_131-10delinsAA rs876657857
NM_144612.6(LOXHD1):c.1469G>A (p.Arg490Gln) rs397517860
NM_144612.6(LOXHD1):c.1476G>T (p.Trp492Cys) rs369682197
NM_144612.6(LOXHD1):c.1571G>A (p.Arg524His) rs187658135
NM_144612.6(LOXHD1):c.1640G>A (p.Arg547His) rs184173766
NM_144612.6(LOXHD1):c.166G>A (p.Gly56Ser) rs200763838
NM_144612.6(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147
NM_144612.6(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675
NM_144612.6(LOXHD1):c.1810-6C>A rs199804946
NM_144612.6(LOXHD1):c.1810-6C>G rs199804946
NM_144612.6(LOXHD1):c.1828G>A (p.Glu610Lys) rs535637788
NM_144612.6(LOXHD1):c.1844G>A (p.Arg615Gln) rs546893082
NM_144612.6(LOXHD1):c.1868G>A (p.Arg623Lys) rs373151735
NM_144612.6(LOXHD1):c.1912G>A (p.Val638Met) rs876657854
NM_144612.6(LOXHD1):c.2035G>A (p.Ala679Thr) rs779377762
NM_144612.6(LOXHD1):c.210G>T (p.Glu70Asp) rs876657859
NM_144612.6(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_144612.6(LOXHD1):c.2288C>T (p.Ala763Val) rs876657858
NM_144612.6(LOXHD1):c.2332G>A (p.Gly778Ser) rs876657860
NM_144612.6(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250
NM_144612.6(LOXHD1):c.2575C>T (p.Arg859Trp) rs372546084
NM_144612.6(LOXHD1):c.2677G>A
NM_144612.6(LOXHD1):c.2696G>A (p.Arg899Gln) rs745683775
NM_144612.6(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_144612.6(LOXHD1):c.2728C>G
NM_144612.6(LOXHD1):c.277G>A (p.Asp93Asn) rs747038125
NM_144612.6(LOXHD1):c.2863G>C (p.Glu955Gln) rs548893604
NM_144612.6(LOXHD1):c.286C>T (p.Arg96Trp) rs397517861
NM_144612.6(LOXHD1):c.287G>A (p.Arg96Gln) rs376467400
NM_144612.6(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521
NM_144612.6(LOXHD1):c.2916_2924AGAGGAGGA[1] (p.Glu976_Glu978del) rs765944082
NM_144612.6(LOXHD1):c.2998C>T (p.Arg1000Trp) rs199847981
NM_144612.6(LOXHD1):c.3145G>A (p.Glu1049Lys) rs727504468
NM_144612.6(LOXHD1):c.3166G>A (p.Glu1056Lys) rs200260213
NM_144612.6(LOXHD1):c.3218C>G (p.Thr1073Arg) rs1353205519
NM_144612.6(LOXHD1):c.3335T>C
NM_144612.6(LOXHD1):c.3412G>A (p.Glu1138Lys) rs1230147513
NM_144612.6(LOXHD1):c.3428A>T (p.Asp1143Val) rs727503143
NM_144612.6(LOXHD1):c.3461G>A (p.Gly1154Asp) rs727503142
NM_144612.6(LOXHD1):c.3626C>T (p.Thr1209Ile) rs727504804
NM_144612.6(LOXHD1):c.3657T>A (p.Asp1219Glu) rs397517862
NM_144612.6(LOXHD1):c.3673A>G (p.Ser1225Gly) rs370149278
NM_144612.6(LOXHD1):c.37A>G (p.Ile13Val) rs1384593055
NM_144612.6(LOXHD1):c.3874C>T (p.Leu1292Phe) rs200792636
NM_144612.6(LOXHD1):c.3941C>T (p.Thr1314Ile) rs182125538
NM_144612.6(LOXHD1):c.4000G>A (p.Asp1334Asn) rs1555673818
NM_144612.6(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055
NM_144612.6(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061
NM_144612.6(LOXHD1):c.4090G>T (p.Val1364Leu) rs144935513
NM_144612.6(LOXHD1):c.4190G>A (p.Arg1397His) rs727505122
NM_144612.6(LOXHD1):c.4240G>T
NM_144612.6(LOXHD1):c.4256C>T (p.Thr1419Ile) rs866017859
NM_144612.6(LOXHD1):c.4281T>G (p.Ile1427Met) rs727503140
NM_144612.6(LOXHD1):c.4349A>G (p.Tyr1450Cys) rs1416571809
NM_144612.6(LOXHD1):c.4376-6G>A rs369463541
NM_144612.6(LOXHD1):c.4423G>T (p.Gly1475Trp) rs779091317
NM_144612.6(LOXHD1):c.4525G>A (p.Gly1509Arg) rs727505320
NM_144612.6(LOXHD1):c.458G>A
NM_144612.6(LOXHD1):c.4741-11C>G rs181095005
NM_144612.6(LOXHD1):c.4742A>G (p.Glu1581Gly) rs1555670255
NM_144612.6(LOXHD1):c.4756C>T (p.Arg1586Cys) rs773223976
NM_144612.6(LOXHD1):c.4757G>T (p.Arg1586Leu) rs369890906
NM_144612.6(LOXHD1):c.4877-3C>A rs876657861
NM_144612.6(LOXHD1):c.4957G>A (p.Gly1653Arg) rs374897301
NM_144612.6(LOXHD1):c.4957G>C
NM_144612.6(LOXHD1):c.5085+6G>A rs373466081
NM_144612.6(LOXHD1):c.5085+822G>A rs876657853
NM_144612.6(LOXHD1):c.5085+828G>A rs727504848
NM_144612.6(LOXHD1):c.5085+846_5085+858dup rs876657855
NM_144612.6(LOXHD1):c.5085+903A>T rs200930427
NM_144612.6(LOXHD1):c.5087T>A (p.Val1696Asp) rs727503139
NM_144612.6(LOXHD1):c.5128G>A (p.Gly1710Arg) rs775186197
NM_144612.6(LOXHD1):c.5171A>G (p.Asn1724Ser) rs192929296
NM_144612.6(LOXHD1):c.5201A>G (p.Lys1734Arg) rs370816148
NM_144612.6(LOXHD1):c.5204A>G (p.Lys1735Arg) rs368286192
NM_144612.6(LOXHD1):c.5214-7C>G rs376131738
NM_144612.6(LOXHD1):c.5224G>A (p.Glu1742Lys) rs200242497
NM_144612.6(LOXHD1):c.5272A>T (p.Thr1758Ser) rs775871086
NM_144612.6(LOXHD1):c.5328G>A (p.Glu1776=) rs749182319
NM_144612.6(LOXHD1):c.5437G>A (p.Val1813Ile) rs367623969
NM_144612.6(LOXHD1):c.5545G>A (p.Gly1849Arg) rs780560784
NM_144612.6(LOXHD1):c.5554G>A (p.Gly1852Arg) rs727504988
NM_144612.6(LOXHD1):c.5725G>T (p.Asp1909Tyr) rs727504544
NM_144612.6(LOXHD1):c.5736C>A
NM_144612.6(LOXHD1):c.5869G>A (p.Glu1957Lys) rs373848470
NM_144612.6(LOXHD1):c.5882A>G
NM_144612.6(LOXHD1):c.5896G>A
NM_144612.6(LOXHD1):c.6011C>T (p.Thr2004Met) rs368303635
NM_144612.6(LOXHD1):c.601G>A (p.Gly201Arg) rs727504992
NM_144612.6(LOXHD1):c.6043A>T (p.Ile2015Phe) rs563899816
NM_144612.6(LOXHD1):c.6082C>T (p.Arg2028Trp) rs569341831
NM_144612.6(LOXHD1):c.6128C>A (p.Thr2043Asn) rs1555653083
NM_144612.6(LOXHD1):c.6136G>A
NM_144612.6(LOXHD1):c.6154G>A
NM_144612.6(LOXHD1):c.6193_6198AGGAAG[3] (p.2065_2066RK[3]) rs1555651404
NM_144612.6(LOXHD1):c.621G>C (p.Arg207Ser) rs200328459
NM_144612.6(LOXHD1):c.6338T>C (p.Phe2113Ser) rs546735322
NM_144612.6(LOXHD1):c.6353G>A (p.Gly2118Glu) rs763915229
NM_144612.6(LOXHD1):c.6386A>G
NM_144612.6(LOXHD1):c.6409G>A (p.Glu2137Lys) rs376559755
NM_144612.6(LOXHD1):c.6454G>A (p.Gly2152Ser) rs769490340
NM_144612.6(LOXHD1):c.6524T>G (p.Val2175Gly) rs1555651054
NM_144612.6(LOXHD1):c.663C>G (p.Asp221Glu) rs1304841781
NM_144612.6(LOXHD1):c.683C>T (p.Pro228Leu) rs372408513
NM_144612.6(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915
NM_144612.6(LOXHD1):c.811C>T (p.Arg271Cys) rs727503151
NM_144612.6(LOXHD1):c.854A>G (p.Asp285Gly) rs1354495647
NM_144612.6(LOXHD1):c.889A>C (p.Thr297Pro) rs117747744
NM_144612.6(LOXHD1):c.91G>C (p.Asp31His) rs876657862

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