List of variants in gene LOXHD1 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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: 31

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001384474.1(LOXHD1):c.2998C>T (p.Arg1000Trp)	rs199847981	0.00069
NM_001384474.1(LOXHD1):c.1868G>A (p.Arg623Lys)	rs373151735	0.00039
NM_001384474.1(LOXHD1):c.916G>A (p.Asp306Asn)	rs769059187	0.00039
NM_001384474.1(LOXHD1):c.3979T>A (p.Phe1327Ile)	rs749667545	0.00024
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys)	rs373848470	0.00022
NM_001384474.1(LOXHD1):c.1639C>T (p.Arg547Cys)	rs113444922	0.00016
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln)	rs376467400	0.00013
NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys)	rs369682197	0.00011
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp)	rs540100675	0.00011
NM_001384474.1(LOXHD1):c.4756C>T (p.Arg1586Cys)	rs773223976	0.00010
NM_001384474.1(LOXHD1):c.1795T>C (p.Phe599Leu)	rs776769626	0.00009
NM_001384474.1(LOXHD1):c.5085+6G>A	rs373466081	0.00009
NM_001384474.1(LOXHD1):c.2317C>T (p.Arg773Cys)	rs376186520	0.00008
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu)	rs755485250	0.00006
NM_001384474.1(LOXHD1):c.3335T>C (p.Met1112Thr)	rs371252446	0.00006
NM_001384474.1(LOXHD1):c.6079G>A (p.Gly2027Arg)	rs778228882	0.00006
NM_001384474.1(LOXHD1):c.176C>T (p.Thr59Met)	rs374871163	0.00004
NM_001384474.1(LOXHD1):c.3016G>A (p.Glu1006Lys)	rs868583953	0.00004
NM_001384474.1(LOXHD1):c.3896C>T (p.Thr1299Met)	rs113591161	0.00004
NM_001384474.1(LOXHD1):c.4978A>G (p.Lys1660Glu)	rs868705338	0.00004
NM_001384474.1(LOXHD1):c.6097A>G (p.Asn2033Asp)	rs199838861	0.00004
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met)	rs770710016	0.00003
NM_001384474.1(LOXHD1):c.277G>A (p.Asp93Asn)	rs747038125	0.00003
NM_001384474.1(LOXHD1):c.723C>A (p.Asn241Lys)	rs1364819556	0.00003
NM_001384474.1(LOXHD1):c.1562A>G (p.Asn521Ser)	rs556312555	0.00002
NM_001384474.1(LOXHD1):c.2311C>G (p.Gln771Glu)	rs1008856721	0.00001
NM_001384474.1(LOXHD1):c.3161C>T (p.Thr1054Met)	rs555210209	0.00001
NM_001384474.1(LOXHD1):c.1751C>T (p.Thr584Met)	rs747842788
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp)	rs376539851
NM_001384474.1(LOXHD1):c.2771G>C (p.Arg924Pro)	rs140904207
NM_001384474.1(LOXHD1):c.2913_2921del (p.Glu976_Glu978del)	rs753461629

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.