ClinVar Miner

List of variants in gene CRB1 reported as pathogenic by Faculty of Health Sciences, Beirut Arab University

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Gene type:
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Total variants: 11
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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.1463T>C (p.Phe488Ser) rs777377174 0.00001
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg) rs786205450
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) rs866822473
NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs) rs1664325377
NM_201253.3(CRB1):c.2024G>A (p.Trp675Ter) rs1664348016
NM_201253.3(CRB1):c.2330_2336del (p.Pro777fs) rs786205610
NM_201253.3(CRB1):c.2701G>T (p.Val901Phe) rs1664767158
NM_201253.3(CRB1):c.3495T>G (p.Cys1165Trp) rs1665099725
NM_201253.3(CRB1):c.80G>C (p.Cys27Ser) rs1460946384
NM_201253.3(CRB1):c.80G>T (p.Cys27Phe) rs1460946384

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