ClinVar Miner

List of variants reported as uncertain significance 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: 26
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) rs146519482 0.00102
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_000041.4(APOE):c.805C>G (p.Arg269Gly) rs267606661 0.00032
NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys) rs150400387 0.00029
NM_000021.4(PSEN1):c.*390T>G rs200372973 0.00014
NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr) rs148238688 0.00014
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) rs267606664 0.00013
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.676C>T (p.Arg226Trp) rs781516027 0.00004
NM_000447.3(PSEN2):c.85C>T (p.Arg29Cys) rs142892469 0.00004
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_000447.3(PSEN2):c.902C>T (p.Thr301Met) rs144277432 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_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_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

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