ClinVar Miner

List of variants in gene EFEMP1 reported as benign for Doyne honeycomb retinal dystrophy

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001039348.3(EFEMP1):c.518-13A>G rs3748959 0.18234
NM_001039348.3(EFEMP1):c.81+20G>C rs2277886 0.14821
NM_001039348.3(EFEMP1):c.*1004C>G rs1802575 0.08390
NM_001039348.3(EFEMP1):c.-67G>A rs3762515 0.07418
NM_001039348.3(EFEMP1):c.-52A>G rs10167115 0.06667
NM_001039348.2(EFEMP1):c.-460C>A rs79563212 0.06659
NM_001039348.2(EFEMP1):c.-196C>T rs3762514 0.06301
NM_001039348.3(EFEMP1):c.1001-14C>T rs45535043 0.05588
NM_001039348.3(EFEMP1):c.207C>A (p.Leu69=) rs12292 0.03783
NM_001039348.3(EFEMP1):c.246A>G (p.Glu82=) rs35447389 0.02181
NM_001039348.3(EFEMP1):c.*1063G>A rs112334283 0.02006
NM_001039348.3(EFEMP1):c.387A>G (p.Glu129=) rs14282 0.01837
NM_001039348.3(EFEMP1):c.-88C>T rs143361440 0.01833
NM_001039348.2(EFEMP1):c.-368G>C rs111619737 0.01733
NM_001039348.3(EFEMP1):c.518-11G>A rs73940333 0.01129
NM_001039348.3(EFEMP1):c.*962C>A rs77386452 0.01057
NM_001039348.3(EFEMP1):c.*168A>G rs1802574 0.00570
NM_001039348.3(EFEMP1):c.*800C>T rs146101049 0.00564
NM_001039348.3(EFEMP1):c.*649C>T rs186888998 0.00533
NM_001039348.3(EFEMP1):c.-60G>A rs192789765 0.00374
NM_001039348.3(EFEMP1):c.*248A>C rs117386259 0.00227
NM_001039348.3(EFEMP1):c.*687T>C rs138843899 0.00192
NM_001039348.3(EFEMP1):c.*507C>T rs188698134 0.00151
NM_001039348.3(EFEMP1):c.-64C>T rs3762516 0.00128
NM_001039348.3(EFEMP1):c.1160G>A (p.Arg387Gln) rs146446706 0.00115
NM_001039348.3(EFEMP1):c.146A>C (p.Asp49Ala) rs55849640 0.00103
NM_001039348.3(EFEMP1):c.640+6T>C rs192467647 0.00035
NM_001039348.3(EFEMP1):c.*1026C>T rs540075808 0.00032
NM_001039348.3(EFEMP1):c.-105C>T rs558071999 0.00028
NM_001039348.3(EFEMP1):c.1413C>T (p.Ser471=) rs374690853 0.00024
NM_001039348.3(EFEMP1):c.489C>T (p.Tyr163=) rs761107410 0.00004
NM_001039348.3(EFEMP1):c.-16T>A rs187417918 0.00002
NM_001039348.3(EFEMP1):c.*668C>T rs573892776 0.00001
NM_001039348.3(EFEMP1):c.*695T>C rs3791680 0.00001
NM_001039348.3(EFEMP1):c.*6del rs200536754
NM_001039348.3(EFEMP1):c.1000+19del rs56280335
NM_001039348.3(EFEMP1):c.761-28TA[8] rs3838530

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