ClinVar Miner

List of variants studied for Alzheimer disease by OMIM

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) rs661
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys) rs281875357
NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln) rs121917808
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824
NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser) rs63751141
NM_000021.4(PSEN1):c.360A>T (p.Glu120Asp) rs63751272
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu) rs63750306
NM_000021.4(PSEN1):c.436A>G (p.Met146Val) rs63750306
NM_000021.4(PSEN1):c.438G>A (p.Met146Ile) rs63750391
NM_000021.4(PSEN1):c.487C>T (p.His163Tyr) rs63749885
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.497T>C (p.Leu166Pro) rs63750265
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe) rs63750577
NM_000021.4(PSEN1):c.520C>A (p.Leu174Met) rs63751144
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.749T>C (p.Leu250Ser) rs63751163
NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser) rs63751229
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) rs63749891
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) rs63750231
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) rs63750231
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val) rs63751235
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met) rs63750666
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) rs63750110
NM_000447.3(PSEN2):c.254C>T (p.Ala85Val) rs63750048
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000447.3(PSEN2):c.365C>G (p.Thr122Arg) rs28936380
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000447.3(PSEN2):c.715A>G (p.Met239Val) rs28936379
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) rs63749884
NM_000484.4(APP):c.1995G>C (p.Glu665Asp) rs63750363
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) rs281865161
NM_000484.4(APP):c.2018C>T (p.Ala673Val) rs193922916
NM_000484.4(APP):c.2075C>G (p.Ala692Gly) rs63750671
NM_000484.4(APP):c.2078A>G (p.Glu693Gly) rs63751039
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066
NM_000484.4(APP):c.2140A>G (p.Thr714Ala) rs63750643
NM_000484.4(APP):c.2141C>T (p.Thr714Ile) rs63750973
NM_000484.4(APP):c.2143G>A (p.Val715Met) rs63750734
NM_000484.4(APP):c.2146A>G (p.Ile716Val) rs63750399
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000484.4(APP):c.2149G>C (p.Val717Leu) rs63750264
NM_000484.4(APP):c.2149G>T (p.Val717Phe) rs63750264
NM_000484.4(APP):c.2150T>G (p.Val717Gly) rs63749964
NM_001110.4(ADAM10):c.510G>C (p.Gln170His)
NM_001110.4(ADAM10):c.541A>G (p.Arg181Gly) rs145518263
NM_012268.4(PLD3):c.694G>A (p.Val232Met) rs145999145
PSEN1, IVS4DS, 1-BP DEL, G
PSEN1, IVS8AS, G-T, -1
m.3397A>G rs199476120

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