List of variants in gene combination DOK1, LOXL3 studied for LOXL3-related disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_032603.5(LOXL3):c.542C>T (p.Pro181Leu)	rs150977936	0.00165
NM_032603.5(LOXL3):c.405G>A (p.Thr135=)	rs141075927	0.00139
NM_032603.5(LOXL3):c.684C>T (p.Ala228=)	rs367759468	0.00045
NM_032603.5(LOXL3):c.544C>T (p.Leu182=)	rs537721394	0.00038
NM_032603.5(LOXL3):c.579T>C (p.Leu193=)	rs373048810	0.00014
NM_032603.5(LOXL3):c.129G>A (p.Arg43=)	rs191994982	0.00003
NM_032603.5(LOXL3):c.314-3C>T	rs143795234	0.00002
NM_032603.5(LOXL3):c.658C>T (p.Pro220Ser)	rs765772693	0.00001
NM_032603.5(LOXL3):c.202A>T (p.Thr68Ser)
NM_032603.5(LOXL3):c.317G>A (p.Arg106His)	rs73949682
NM_032603.5(LOXL3):c.527G>A (p.Gly176Glu)	rs199751441

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