ClinVar Miner

List of variants reported as likely pathogenic for vitelliform macular dystrophy 2 by Genetics and Molecular Pathology, SA Pathology

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
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.1552G>T (p.Glu518Ter)	rs370835731	0.00005
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys)	rs886041141	0.00003
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser)	rs1805143

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