List of variants in gene LOXHD1 reported as likely pathogenic by Laboratory of Prof. Karen Avraham, Tel Aviv University

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His)	rs187658135	0.00022
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln)	rs548893604	0.00013
NM_001384474.1(LOXHD1):c.1856G>A (p.Arg619Gln)	rs781769655	0.00003

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