ClinVar Miner

List of variants studied for ABeta amyloidosis, Iowa type by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000484.4(APP):c.1840A>G (p.Ser614Gly) rs112263157 0.00475
NM_000484.4(APP):c.2124C>T (p.Gly708=) rs148888161 0.00348
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.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
NM_000484.4(APP):c.1458+18C>T rs200083249
NM_000484.4(APP):c.2148C>T (p.Ile716=) rs145564988
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264

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