ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NM_144612.6(LOXHD1):c.2303del (p.Gly768fs) rs727503146
NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157
NM_144612.6(LOXHD1):c.3148G>T (p.Glu1050Ter) rs1555679863
NM_144612.6(LOXHD1):c.3169C>T (p.Arg1057Ter) rs727505104
NM_144612.6(LOXHD1):c.4099G>T (p.Glu1367Ter) rs373937326
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144612.6(LOXHD1):c.4714C>T rs75949023
NM_144612.6(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375

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