ClinVar Miner

List of variants in gene LOXHD1 reported as likely pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 4
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NM_001145472.3(LOXHD1):c.1461_1462insTC (p.Ile488fs) rs1598914701
NM_144612.6(LOXHD1):c.2598+1G>C rs1555680544
NM_144612.6(LOXHD1):c.3061+1G>T rs537227442
NM_144612.6(LOXHD1):c.4714C>T rs75949023

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