ClinVar Miner

List of variants reported as likely benign for Leber congenital amaurosis 12 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001164688.2(RD3):c.494A>C (p.Asp165Ala) rs149051185 0.00158
NM_001164688.2(RD3):c.83C>T (p.Thr28Met) rs61740157 0.00102
NM_001164688.2(RD3):c.318G>A (p.Glu106=) rs372509543 0.00021
NM_001164688.2(RD3):c.433C>A (p.Arg145=) rs774736321 0.00008
NM_001164688.2(RD3):c.252C>T (p.Val84=) rs758095282 0.00007
NM_001164688.2(RD3):c.171T>G (p.Gly57=) rs370712983 0.00006
NM_001164688.2(RD3):c.450G>A (p.Leu150=) rs367790139 0.00006
NM_001164688.2(RD3):c.135G>A (p.Arg45=) rs374821619 0.00005
NM_001164688.2(RD3):c.327C>G (p.Pro109=) rs774437667 0.00005
NM_001164688.2(RD3):c.231G>A (p.Glu77=) rs779179784 0.00004
NM_001164688.2(RD3):c.498C>T (p.Ile166=) rs779584830 0.00004
NM_001164688.2(RD3):c.540A>G (p.Pro180=) rs777005487 0.00004
NM_001164688.2(RD3):c.150G>A (p.Ala50=) rs751609154 0.00003
NM_001164688.2(RD3):c.102G>A (p.Thr34=) rs199511076 0.00002
NM_001164688.2(RD3):c.30C>T (p.Asn10=) rs774563819 0.00002
NM_001164688.2(RD3):c.417G>A (p.Thr139=) rs1232346364 0.00001
NM_001164688.2(RD3):c.141C>T (p.Arg47=)
NM_001164688.2(RD3):c.198A>G (p.Thr66=)
NM_001164688.2(RD3):c.207C>G (p.Ser69=)
NM_001164688.2(RD3):c.216C>T (p.Asp72=)
NM_001164688.2(RD3):c.255C>T (p.Cys85=)
NM_001164688.2(RD3):c.264C>T (p.Ile88=)
NM_001164688.2(RD3):c.279T>C (p.Cys93=) rs1462748072
NM_001164688.2(RD3):c.296+9dup
NM_001164688.2(RD3):c.297-16C>T rs1348603288
NM_001164688.2(RD3):c.327C>T (p.Pro109=) rs774437667
NM_001164688.2(RD3):c.333G>T (p.Val111=)
NM_001164688.2(RD3):c.360G>C (p.Ser120=)
NM_001164688.2(RD3):c.369G>A (p.Gln123=) rs2102366496
NM_001164688.2(RD3):c.375C>G (p.Val125=)
NM_001164688.2(RD3):c.381G>A (p.Glu127=)
NM_001164688.2(RD3):c.438C>T (p.Pro146=)
NM_001164688.2(RD3):c.468C>T (p.Arg156=) rs148189077
NM_001164688.2(RD3):c.483C>G (p.Pro161=)
NM_001164688.2(RD3):c.492C>T (p.Ser164=) rs1705209781
NM_001164688.2(RD3):c.516C>T (p.Asp172=)
NM_001164688.2(RD3):c.537G>T (p.Pro179=) rs759768016
NM_001164688.2(RD3):c.541C>T (p.Leu181=)
NM_001164688.2(RD3):c.564A>G (p.Glu188=)
NM_001164688.2(RD3):c.568C>A (p.Arg190=)
NM_001164688.2(RD3):c.582C>T (p.Ala194=)
NM_001164688.2(RD3):c.87T>C (p.Leu29=)
NM_001164688.2(RD3):c.97C>T (p.Leu33=) rs2102367931

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