ClinVar Miner

List of variants in gene CRB2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_173689.7(CRB2):c.278G>A (p.Arg93His) rs138381817 0.00563
NM_173689.7(CRB2):c.2748C>T (p.Ala916=) rs372726074 0.00422
NM_173689.7(CRB2):c.1428T>G (p.Thr476=) rs142345530 0.00412
NM_173689.7(CRB2):c.1236C>T (p.Ile412=) rs55641439 0.00277
NM_173689.7(CRB2):c.270C>T (p.Thr90=) rs140031022 0.00223
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe) rs35578485 0.00159
NM_173689.7(CRB2):c.142G>A (p.Ala48Thr) rs200283870 0.00143
NM_173689.7(CRB2):c.606G>A (p.Leu202=) rs201174974 0.00130
NM_173689.7(CRB2):c.516C>T (p.Cys172=) rs146687164 0.00083
NM_173689.7(CRB2):c.870C>T (p.Ala290=) rs143804347 0.00061
NM_173689.7(CRB2):c.2547C>T (p.Pro849=) rs201242880 0.00045
NM_173689.7(CRB2):c.2043C>T (p.Ser681=) rs151243935 0.00041
NM_173689.7(CRB2):c.762C>T (p.Ser254=) rs201665228 0.00008
NM_173689.7(CRB2):c.153C>T (p.Thr51=) rs759815636 0.00007
NM_173689.7(CRB2):c.3459C>T (p.Gly1153=) rs762741525 0.00004
NM_173689.7(CRB2):c.600C>T (p.His200=) rs1375078263 0.00001
NM_173689.7(CRB2):c.2757C>A (p.Gly919=)

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