ClinVar Miner

List of variants studied for adult-onset foveomacular vitelliform dystrophy by DBGen Ocular Genomics

Included ClinVar conditions (9):

Adult-onset foveomacular vitelliform dystrophy
Retinitis pigmentosa 56; Vitelliform macular dystrophy 5
Retinitis pigmentosa 7; Pigmentary retinal dystrophy; Patterned macular dystrophy 1; Choroidal dystrophy, central areolar 2; Vitelliform macular dystrophy 3
Vitelliform macular dystrophy 1
Vitelliform macular dystrophy 1; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17
Vitelliform macular dystrophy 1; Vitelliform macular dystrophy 4
Vitelliform macular dystrophy 3
Vitelliform macular dystrophy 4
Vitelliform macular dystrophy 5

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_000322.5(PRPH2):c.530T>G (p.Ile177Ser)
NM_000322.5(PRPH2):c.824_828+3delinsCATTTGGGCTCCTCATTTGG	rs2152005182
NM_016247.4(IMPG2):c.1658del (p.Val553fs)	rs1706456124

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