ClinVar Miner

List of variants studied for ABeta amyloidosis, Iowa type

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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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_000484.3(APP):c.-199G>A rs761755102 0.00051
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066 0.00006
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.2125G>A (p.Gly709Ser) rs201269325 0.00003
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
NC_000021.7:g.13636378_28138533dup
NC_000021.8:g.(?_27252860)_(27543089_?)dup
NM_000484.4(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.2061A>C (p.Lys687Asn)
NM_000484.4(APP):c.2077G>C (p.Glu693Gln) rs63750579
NM_000484.4(APP):c.2080G>A (p.Asp694Asn) rs63749810
NM_000484.4(APP):c.2113C>G (p.Leu705Val) rs63750921
NM_000484.4(APP):c.2148C>T (p.Ile716=) rs145564988
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000484.4(APP):c.752G>T (p.Gly251Val)

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