ClinVar Miner

List of variants in gene LOXHD1 reported as pathogenic for not provided

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_144612.6(LOXHD1):c.1468C>T (p.Arg490Ter)
NM_144612.6(LOXHD1):c.1506G>A (p.Trp502Ter)
NM_144612.6(LOXHD1):c.1535_1536CT[1] (p.Leu513fs) rs1555683951
NM_144612.6(LOXHD1):c.2008C>T (p.Arg670Ter) rs121918370
NM_144612.6(LOXHD1):c.2870C>A (p.Ser957Ter) rs1440105492
NM_144612.6(LOXHD1):c.3169C>T (p.Arg1057Ter) rs727505104
NM_144612.6(LOXHD1):c.4212+1G>A
NM_144612.6(LOXHD1):c.4282C>T (p.Arg1428Ter)
NM_144612.6(LOXHD1):c.4376-2A>G rs886043616
NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144612.6(LOXHD1):c.4683dup (p.Arg1562fs) rs1409994676
NM_144612.6(LOXHD1):c.4714C>T rs75949023
NM_144612.6(LOXHD1):c.4741-1G>A rs1057524755
NM_144612.6(LOXHD1):c.4921del (p.Ala1641fs)
NM_144612.6(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375
NM_144612.6(LOXHD1):c.5777G>A (p.Trp1926Ter)
NM_144612.6(LOXHD1):c.5944C>T (p.Arg1982Ter) rs1306586204
NM_144612.6(LOXHD1):c.734dup (p.Ser246fs)
NM_144612.6(LOXHD1):c.894T>G (p.Tyr298Ter) rs886043441

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