ClinVar Miner

List of variants in gene LOXHD1 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 7
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HGVS dbSNP
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_144612.6(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227
NM_144612.6(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614
NM_144612.6(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496
NM_144612.6(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576
NM_144612.6(LOXHD1):c.5085+902C>T rs114736976
NM_144612.6(LOXHD1):c.6555C>T (p.Ala2185=) rs189873733

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