ClinVar Miner

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

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
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_001110.4(ADAM10):c.326-10T>C rs111517153 0.00184
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_000041.4(APOE):c.651C>T (p.Ala217=) rs72654468 0.00090
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_000447.3(PSEN2):c.162G>C (p.Glu54Asp) rs146894466 0.00063
NM_000410.4(HFE):c.*198C>T rs544604880 0.00048
NM_000041.4(APOE):c.805C>G (p.Arg269Gly) rs267606661 0.00032
NM_000447.3(PSEN2):c.520A>G (p.Met174Val) rs61757781 0.00031
NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys) rs150400387 0.00029
NM_000041.4(APOE):c.69G>A (p.Ala23=) rs111833428 0.00024
NM_000021.4(PSEN1):c.*390T>G rs200372973 0.00014
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714 0.00014
NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr) rs148238688 0.00014
NM_000447.3(PSEN2):c.886+16G>A rs202005802 0.00014
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) rs267606664 0.00013
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082 0.00012
NM_000250.2(MPO):c.249-2A>G rs762526880 0.00012
NM_000447.3(PSEN2):c.1177G>A (p.Val393Met) rs142690225 0.00011
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=) rs201496204 0.00009
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_000447.3(PSEN2):c.85C>T (p.Arg29Cys) rs142892469 0.00004
NM_000041.4(APOE):c.249C>T (p.Asp83=) rs767980905 0.00003
NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg) rs63750207 0.00003
NM_000041.4(APOE):c.688G>A (p.Glu230Lys) rs567353589 0.00002
NM_000410.4(HFE):c.546_547del (p.Leu183fs) rs765804978 0.00002
NM_000447.3(PSEN2):c.902C>T (p.Thr301Met) rs144277432 0.00002
NM_000484.4(APP):c.674T>C (p.Val225Ala) rs746313873 0.00002
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399 0.00001
NM_000410.4(HFE):c.766G>A (p.Val256Ile) rs202068193 0.00001
NM_000447.3(PSEN2):c.203T>C (p.Val68Ala) rs765144719 0.00001
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe) rs367855127 0.00001
NM_000484.4(APP):c.1450C>T (p.Pro484Ser) rs768238394 0.00001
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala) rs202133351
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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