ClinVar Miner

List of variants in gene LRIT3 reported as pathogenic for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_198506.5(LRIT3):c.1318C>T (p.Arg440Ter) rs397509378 0.00006
NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter) rs397509379 0.00003
NM_198506.5(LRIT3):c.983G>A (p.Cys328Tyr) rs376610215 0.00002
NM_198506.5(LRIT3):c.1538_1539del (p.Ser513fs) rs397509380
NM_198506.5(LRIT3):c.277G>T (p.Val93Leu) rs1479270315
NM_198506.5(LRIT3):c.59_61del (p.Leu20del)
NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter) rs2125900955

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