ClinVar Miner

List of variants in gene PSEN1 reported as uncertain significance for Pick disease

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
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.1319C>A (p.Thr440Asn)
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val) rs1430581353
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.339A>G (p.Leu113=)
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg) rs1595002439
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His)
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser)
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr)
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu) rs543391977
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln) rs763831389
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala) rs1594750510

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