ClinVar Miner

List of variants in gene CRB2 reported as benign by Genome-Nilou Lab

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_173689.7(CRB2):c.269C>A (p.Thr90Asn) rs2808415 0.99979
NM_173689.7(CRB2):c.2126T>C (p.Val709Ala) rs2488602 0.99976
NM_173689.7(CRB2):c.2905A>G (p.Thr969Ala) rs2488601 0.97843
NM_173689.7(CRB2):c.3389+48A>G rs2488599 0.42611
NM_173689.7(CRB2):c.2523G>A (p.Thr841=) rs61740213 0.39220
NM_173689.7(CRB2):c.434T>C (p.Met145Thr) rs1105223 0.37561
NM_173689.7(CRB2):c.754+34G>C rs11790447 0.34153
NM_173689.7(CRB2):c.476G>C (p.Gly159Ala) rs1105222 0.32596
NM_173689.7(CRB2):c.993C>T (p.Asn331=) rs10818812 0.29807
NM_173689.7(CRB2):c.1587G>A (p.Ala529=) rs33984675 0.22299
NM_173689.7(CRB2):c.2076C>T (p.Ser692=) rs13290763 0.22218
NM_173689.7(CRB2):c.3126G>C (p.Ala1042=) rs2488600 0.21017
NM_173689.7(CRB2):c.3329C>T (p.Thr1110Met) rs73571431 0.12417
NM_173689.7(CRB2):c.3021T>C (p.Ala1007=) rs7848449 0.10131
NM_173689.7(CRB2):c.2043C>T (p.Ser681=) rs151243935 0.00041
NM_173689.7(CRB2):c.-21CAGAGCG[1] rs60364866

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