ClinVar Miner

List of variants in gene LOXHD1 reported as likely pathogenic

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Total variants: 12
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HGVS dbSNP
NM_144612.6(LOXHD1):c.2047+1G>T
NM_144612.6(LOXHD1):c.2244+2T>G rs1555681351
NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157
NM_144612.6(LOXHD1):c.2598+1G>C rs1555680544
NM_144612.6(LOXHD1):c.3061+1G>A rs537227442
NM_144612.6(LOXHD1):c.3061+1G>T rs537227442
NM_144612.6(LOXHD1):c.4096-1G>C rs749861944
NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144612.6(LOXHD1):c.4714C>T rs75949023
NM_144612.6(LOXHD1):c.4989G>A (p.Trp1663Ter) rs1223508098
NM_144612.6(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375

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