ClinVar Miner

List of variants in gene CRB1 reported as uncertain significance by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) rs749746650 0.00001
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) rs878853367 0.00001
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
NM_201253.3(CRB1):c.2309G>A (p.Gly770Asp) rs878853365
NM_201253.3(CRB1):c.2843-1G>A rs878853368

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