ClinVar Miner

List of variants reported as pathogenic for pigmented paravenous retinochoroidal atrophy by Mendelics

Included ClinVar conditions (2):

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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_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)	rs1667264651
NM_201253.3(CRB1):c.652+1G>A	rs2125304900

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