ClinVar Miner

List of variants in gene LOXHD1 studied for Deafness, autosomal recessive 77

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Total variants: 62
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HGVS dbSNP
NM_144612.6(LOXHD1):c.1028G>A (p.Arg343His) rs183531840
NM_144612.6(LOXHD1):c.1476G>T (p.Trp492Cys) rs369682197
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_144612.6(LOXHD1):c.1571G>A (p.Arg524His) rs187658135
NM_144612.6(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147
NM_144612.6(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621
NM_144612.6(LOXHD1):c.1810-6C>A rs199804946
NM_144612.6(LOXHD1):c.1843C>A (p.Arg615=) rs112463030
NM_144612.6(LOXHD1):c.1843C>T (p.Arg615Trp) rs112463030
NM_144612.6(LOXHD1):c.1868G>A (p.Arg623Lys) rs373151735
NM_144612.6(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807
NM_144612.6(LOXHD1):c.2008C>T (p.Arg670Ter) rs121918370
NM_144612.6(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744
NM_144612.6(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_144612.6(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250
NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157
NM_144612.6(LOXHD1):c.2816_2818AGA[3] (p.Lys942del) rs142960762
NM_144612.6(LOXHD1):c.2841C>T (p.Asp947=) rs761010290
NM_144612.6(LOXHD1):c.2913_2921del (p.Glu976_Glu978del) rs753461629
NM_144612.6(LOXHD1):c.2T>A (p.Met1Lys) rs36024592
NM_144612.6(LOXHD1):c.3024C>T (p.Val1008=) rs370616818
NM_144612.6(LOXHD1):c.3162G>A (p.Thr1054=) rs727503144
NM_144612.6(LOXHD1):c.3185C>T (p.Ser1062Leu) rs1217234229
NM_144612.6(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674
NM_144612.6(LOXHD1):c.3371G>A (p.Arg1124His) rs762111513
NM_144612.6(LOXHD1):c.3561G>A (p.Lys1187=) rs376334860
NM_144612.6(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927
NM_144612.6(LOXHD1):c.3962G>C (p.Gly1321Ala) rs573953982
NM_144612.6(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061
NM_144612.6(LOXHD1):c.4096-1G>C rs749861944
NM_144612.6(LOXHD1):c.4099G>T (p.Glu1367Ter) rs373937326
NM_144612.6(LOXHD1):c.4149G>A (p.Thr1383=) rs373657978
NM_144612.6(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496
NM_144612.6(LOXHD1):c.4256C>T (p.Thr1419Ile) rs866017859
NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666
NM_144612.6(LOXHD1):c.4476_4477insT (p.Glu1493Ter) rs763478051
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197
NM_144612.6(LOXHD1):c.4714C>T rs75949023
NM_144612.6(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576
NM_144612.6(LOXHD1):c.4843G>A (p.Gly1615Arg) rs768835732
NM_144612.6(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375
NM_144612.6(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149
NM_144612.6(LOXHD1):c.5085+1G>A rs1418245706
NM_144612.6(LOXHD1):c.5085+848_5085+860dup rs1555669048
NM_144612.6(LOXHD1):c.5127C>T (p.Gly1709=) rs373924055
NM_144612.6(LOXHD1):c.5201A>G (p.Lys1734Arg) rs370816148
NM_144612.6(LOXHD1):c.5214-3C>T rs528236655
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.5398C>T (p.Arg1800Trp) rs201994383
NM_144612.6(LOXHD1):c.5554G>A (p.Gly1852Arg) rs727504988
NM_144612.6(LOXHD1):c.5616C>A (p.Asn1872Lys) rs61733519
NM_144612.6(LOXHD1):c.5864-15C>T rs397517864
NM_144612.6(LOXHD1):c.5885C>T (p.Thr1962Met) rs369043488
NM_144612.6(LOXHD1):c.5894dup (p.Gly1966fs) rs878853231
NM_144612.6(LOXHD1):c.6057T>C (p.Cys2019=) rs199645176
NM_144612.6(LOXHD1):c.611-15T>C rs146912450
NM_144612.6(LOXHD1):c.6192G>A (p.Lys2064=) rs876657498
NM_144612.6(LOXHD1):c.6311C>G (p.Pro2104Arg) rs200198786
NM_144612.6(LOXHD1):c.811C>T (p.Arg271Cys) rs727503151
NM_144612.6(LOXHD1):c.[4480C>T];[4714C>T]

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