ClinVar Miner

List of variants in gene IMPG2 reported as pathogenic for vitelliform macular dystrophy 2

Included ClinVar conditions (3):

Autosomal recessive bestrophinopathy; Vitelliform macular dystrophy 2
Autosomal recessive bestrophinopathy; Vitelliform macular dystrophy 2; Autosomal dominant vitreoretinochoroidopathy; Retinitis pigmentosa 50
Vitelliform macular dystrophy 2

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_016247.4(IMPG2):c.3142C>T (p.Arg1048Trp)	rs770293441	0.00009
NM_016247.4(IMPG2):c.455G>A (p.Gly152Asp)	rs867271343	0.00001

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