List of variants in gene PSEN1 reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 40

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HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.*3632G>A	rs362393	0.10183
NM_000021.4(PSEN1):c.*313C>A	rs362384	0.08161
NM_000021.3(PSEN1):c.-296C>T	rs1800839	0.05747
NM_000021.4(PSEN1):c.*364T>C	rs362385	0.03451
NM_000021.4(PSEN1):c.*3889G>A	rs17125952	0.02429
NM_000021.4(PSEN1):c.1248+8T>C	rs362382	0.01609
NM_000021.4(PSEN1):c.*3637C>T	rs114000457	0.01606
NM_000021.4(PSEN1):c.*3360A>G	rs362390	0.01605
NM_000021.4(PSEN1):c.*3525A>G	rs362391	0.01605
NM_000021.4(PSEN1):c.*1690T>C	rs10143618	0.01604
NM_000021.4(PSEN1):c.*2430T>C	rs362388	0.01604
NM_000021.4(PSEN1):c.*3823G>A	rs362394	0.01595
NM_000021.4(PSEN1):c.*4147T>G	rs362396	0.01523
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)	rs17125721	0.01497
NM_000021.4(PSEN1):c.*1381G>A	rs362387	0.00765
NM_000021.4(PSEN1):c.*3566A>G	rs74061007	0.00746
NM_000021.4(PSEN1):c.*3358A>G	rs74061006	0.00741
NM_000021.4(PSEN1):c.*1791A>T	rs177412	0.00446
NM_000021.4(PSEN1):c.*2580C>T	rs117394753	0.00305
NM_000021.4(PSEN1):c.*4030A>G	rs186752250	0.00283
NM_000021.4(PSEN1):c.*3941C>A	rs144455736	0.00276
NM_000021.4(PSEN1):c.*672G>A	rs192897390	0.00225
NM_000021.4(PSEN1):c.*3495A>G	rs141799841	0.00220
NM_000021.4(PSEN1):c.*449T>C	rs112911413	0.00206
NM_000021.4(PSEN1):c.*2108G>A	rs368329004	0.00187
NM_000021.4(PSEN1):c.*3508G>A	rs150550252	0.00137
NM_000021.4(PSEN1):c.*4113G>A	rs190718487	0.00125
NM_000021.4(PSEN1):c.*166T>A	rs192302611	0.00080
NM_000021.4(PSEN1):c.*230G>T	rs200692223	0.00049
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=)	rs201776669	0.00041
NM_000021.4(PSEN1):c.*3328C>G	rs181726819	0.00038
NM_000021.4(PSEN1):c.*2529G>T	rs574941431	0.00031
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln)	rs63750592	0.00030
NM_000021.4(PSEN1):c.654A>G (p.Pro218=)	rs115760359	0.00011
NM_000021.4(PSEN1):c.*2543C>T	rs138620990	0.00006
NM_000021.4(PSEN1):c.*2017A>T	rs538178628	0.00004
NM_000021.4(PSEN1):c.*1484A>C	rs147866042
NM_000021.4(PSEN1):c.*3538C>G	rs362392
NM_000021.4(PSEN1):c.*3831C>T	rs362395
NM_000021.4(PSEN1):c.843G>A (p.Thr281=)	rs186495252

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