ClinVar Miner

List of variants in gene MLPH reported as benign for Griscelli syndrome type 3

Included ClinVar conditions (1):

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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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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

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