List of variants in gene LOXHD1 reported as pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)	rs201587138	0.00069
NM_001384474.1(LOXHD1):c.3169C>T (p.Arg1057Ter)	rs727505104	0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)	rs961865375	0.00001
NM_001384474.1(LOXHD1):c.2303del (p.Gly768fs)	rs727503146
NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter)	rs1555679863
NM_001384474.1(LOXHD1):c.4099G>T (p.Glu1367Ter)	rs373937326
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)	rs75949023

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