List of variants in gene MLPH studied for Griscelli syndrome type 3

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024101.7(MLPH):c.1221A>G (p.Glu407=)	rs2271809	0.44998
NM_024101.7(MLPH):c.1121T>C (p.Val374Ala)	rs3817362	0.33210
NM_024101.7(MLPH):c.522G>A (p.Glu174=)	rs181807989	0.00108
NM_024101.7(MLPH):c.70C>T (p.Arg24Ter)	rs140470472	0.00002
NM_024101.7(MLPH):c.103C>T (p.Arg35Trp)	rs119473031	0.00001
NM_024101.7(MLPH):c.104G>A (p.Arg35Gln)	rs786205551	0.00001
NM_024101.7(MLPH):c.1135_1136del (p.Asp379fs)
NM_024101.7(MLPH):c.1552C>G (p.Arg518Gly)
NM_024101.7(MLPH):c.292G>T (p.Glu98Ter)
NM_024101.7(MLPH):c.332+1G>T	rs2106291953
NM_024101.7(MLPH):c.523GCCCAG[4] (p.Gln180_Pro181insAlaGln)
NM_024101.7(MLPH):c.959G>A (p.Arg320Gln)
NM_024101.7(MLPH):c.987del (p.Lys330fs)	rs786205641

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.