ClinVar Miner

List of variants studied for MRCS syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (2):

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.362G>C (p.Gly121Ala)	rs1314618706	0.00003
NM_004183.4(BEST1):c.140G>A (p.Arg47His)	rs28940278	0.00002
NM_004183.4(BEST1):c.488T>G (p.Met163Arg)

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