ClinVar Miner

List of variants studied for pigmented paravenous retinochoroidal atrophy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (2):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_201253.3(CRB1):c.2708_2709del (p.His903fs) rs1664767982
NM_201253.3(CRB1):c.3878+9C>T rs1571564812
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter) rs1665282478
NM_201253.3(CRB1):c.523G>A (p.Val175Ile) rs1166808508
NM_201253.3(CRB1):c.527C>T (p.Pro176Leu) rs1417370819
NM_201253.3(CRB1):c.699T>A (p.Cys233Ter) rs1659643864

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