ClinVar Miner

List of variants studied for Alzheimer disease type 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_000484.4(APP):c.1840A>G (p.Ser614Gly) rs112263157 0.00475
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000250.2(MPO):c.2187C>T (p.Asn729=) rs113203253 0.00469
NM_000484.4(APP):c.2124C>T (p.Gly708=) rs148888161 0.00348
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) rs146519482 0.00102
NM_000603.5(NOS3):c.465C>G (p.Ala155=) rs200774720 0.00080
NM_000410.4(HFE):c.18G>C (p.Arg6Ser) rs149342416 0.00072
NM_000410.4(HFE):c.*603C>T rs62625353 0.00063
NM_000410.4(HFE):c.*198C>T rs544604880 0.00048
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714 0.00014
NM_000250.2(MPO):c.249-2A>G rs762526880 0.00012
NM_000484.4(APP):c.47G>A (p.Arg16Gln) rs955517095 0.00005
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000410.4(HFE):c.676C>T (p.Arg226Trp) rs781516027 0.00004
NM_000410.4(HFE):c.546_547del (p.Leu183fs) rs765804978 0.00002
NM_000484.4(APP):c.674T>C (p.Val225Ala) rs746313873 0.00002
NM_000410.4(HFE):c.766G>A (p.Val256Ile) rs202068193 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
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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