ClinVar Miner

List of variants in gene CRB1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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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.*28T>C rs41302107 0.07060
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys) rs151092557 0.00122
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala) rs533227950 0.00007
NM_201253.3(CRB1):c.1014C>A (p.Ile338=) rs771549675 0.00004
NM_201253.3(CRB1):c.2118C>T (p.Asn706=) rs775275370 0.00002
NM_201253.3(CRB1):c.3834G>A (p.Gln1278=) rs1041984071 0.00001
NM_201253.3(CRB1):c.1071G>C (p.Leu357=)
NM_201253.3(CRB1):c.2676+7A>T rs774387451
NM_201253.3(CRB1):c.2751A>T (p.Thr917=)
NM_201253.3(CRB1):c.483C>T (p.Ala161=) rs370907719

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