ClinVar Miner

List of variants in gene APP reported as uncertain significance for ABetaA21G amyloidosis

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000484.3(APP):c.-199G>A rs761755102 0.00051
NM_000484.4(APP):c.704C>T (p.Ala235Val) rs139819006 0.00006
NM_000484.4(APP):c.47G>A (p.Arg16Gln) rs955517095 0.00005
NM_000484.4(APP):c.674T>C (p.Val225Ala) rs746313873 0.00002
NM_000484.4(APP):c.1409G>A (p.Arg470His) rs182162117 0.00001
NM_000484.4(APP):c.1450C>T (p.Pro484Ser) rs768238394 0.00001
NM_000484.3(APP):c.-170C>A rs538664273
NM_000484.4(APP):c.1037C>A (p.Ser346Tyr) rs1260561215

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