ClinVar Miner

List of variants reported as pathogenic for adult-onset foveomacular vitelliform dystrophy

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter) rs367576664 0.00005
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu) rs201893545 0.00004
NM_001563.4(IMPG1):c.461T>C (p.Leu154Pro) rs713993047 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314 0.00001
NM_000322.5(PRPH2):c.113del (p.Gly38fs) rs61755769
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr) rs121918565
NM_000322.5(PRPH2):c.316_317del (p.Val106fs) rs1562434117
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) rs61755798
NM_000322.5(PRPH2):c.774C>A (p.Tyr258Ter) rs121918564
NM_000322.5(PRPH2):c.824_828+3delinsCATTTGGGCTCCTCATTTGG rs2152005182
NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter) rs121918566
NM_001563.4(IMPG1):c.1824+1G>A rs770887047
NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg) rs713993045
NM_001563.4(IMPG1):c.807+1G>T rs713993046
NM_001563.4(IMPG1):c.807+5G>A rs2149482319
NM_001563.4(IMPG1):c.960T>A (p.Ser320Arg) rs1783079545
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_016247.4(IMPG2):c.1658del (p.Val553fs) rs1706456124
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) rs786205564
NM_016247.4(IMPG2):c.3230G>T (p.Cys1077Phe) rs713993049
NM_016247.4(IMPG2):c.727G>C (p.Ala243Pro) rs1706811719

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