ClinVar Miner

List of variants in gene CRB1 reported as uncertain significance for not specified

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.484G>A (p.Val162Met) rs137853138 0.00106
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_201253.3(CRB1):c.2752A>T (p.Ser918Cys) rs776426313 0.00002
NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp) rs760100325 0.00002
NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr) rs746597173 0.00001
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys) rs137853136 0.00001
GRCh37/hg19 1q31.3(chr1:197202740-197266535)
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
NM_201253.3(CRB1):c.1688G>C (p.Ser563Thr)
NM_201253.3(CRB1):c.1777G>A (p.Ala593Thr)
NM_201253.3(CRB1):c.1885A>G (p.Asn629Asp)
NM_201253.3(CRB1):c.2093G>A (p.Cys698Tyr)
NM_201253.3(CRB1):c.2309G>A (p.Gly770Asp) rs878853365
NM_201253.3(CRB1):c.2416G>C (p.Glu806Gln)
NM_201253.3(CRB1):c.3520T>G (p.Cys1174Gly)
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782
NM_201253.3(CRB1):c.3901T>C (p.Cys1301Arg)
NM_201253.3(CRB1):c.936T>G (p.Asn312Lys)

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