ClinVar Miner

List of variants studied for Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Acne inversa, familial, 3 by Invitae

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Total variants: 49
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HGVS dbSNP
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669
NM_000021.4(PSEN1):c.1034A>G (p.Asp345Gly)
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr) rs199715992
NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp) rs1566656647
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) rs661
NM_000021.4(PSEN1):c.1248+8T>C rs362382
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.1319C>A (p.Thr440Asn)
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val) rs1430581353
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824
NM_000021.4(PSEN1):c.262C>A (p.Pro88Thr)
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser)
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly)
NM_000021.4(PSEN1):c.321C>G (p.Thr107=) rs139863395
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.339A>G (p.Leu113=)
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn) rs63750730
NM_000021.4(PSEN1):c.366C>T (p.Thr122=) rs201644344
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg) rs1595002439
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr) rs63750004
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu) rs63750306
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His)
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser)
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr)
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu) rs543391977
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu) rs63750053
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) rs63750053
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr) rs1555355250
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln) rs763831389
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.792G>T (p.Pro264=) rs150301281
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) rs63750886
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) rs63750231
NM_000021.4(PSEN1):c.869-2A>T rs1566650594
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala) rs1594750510
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) rs121917809

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