ClinVar Miner

List of variants in gene PSEN1 reported as benign

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Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.480+223A>G rs214269 0.74864
NM_000021.4(PSEN1):c.868+16G>T rs165932 0.61457
NM_000021.4(PSEN1):c.869-263C>A rs165934 0.61331
NM_000021.4(PSEN1):c.*1147C>T rs165935 0.61302
NM_000021.4(PSEN1):c.*3722C>T rs362344 0.24215
NM_000021.4(PSEN1):c.*947G>A rs7523 0.14277
NM_000021.4(PSEN1):c.1129+225A>G rs28660183 0.13213
NM_000021.4(PSEN1):c.1130-193G>T rs2272585 0.11735
NM_000021.4(PSEN1):c.*3632G>A rs362393 0.10183
NM_000021.4(PSEN1):c.956-264G>A rs362377 0.09907
NM_000021.4(PSEN1):c.338+206T>C rs362355 0.08573
NM_000021.4(PSEN1):c.*313C>A rs362384 0.08161
NM_000021.4(PSEN1):c.1129+151T>C rs867230071 0.06588
NM_000021.3(PSEN1):c.-296C>T rs1800839 0.05747
NM_000021.4(PSEN1):c.*2864A>C rs362389 0.05717
NM_000021.4(PSEN1):c.955+200T>C rs362374 0.03945
NM_000021.4(PSEN1):c.770-21T>C rs3025786 0.03618
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_000021.3(PSEN1):c.-528C>G rs34086577 0.00339
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.*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.321C>G (p.Thr107=) rs139863395 0.00150
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669 0.00041
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707 0.00037
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592 0.00030
NM_000021.4(PSEN1):c.234C>T (p.Gly78=) rs143782428 0.00012
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359 0.00011
NM_000021.4(PSEN1):c.96T>C (p.Asn32=) rs201759335 0.00006
NM_000021.4(PSEN1):c.138C>T (p.His46=) rs116882898 0.00003
NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val) rs1398951357 0.00001
NC_000014.9:g.73136378del rs148370307
NM_000021.4(PSEN1):c.*1867ACAG[1] rs563773430
NM_000021.4(PSEN1):c.*3538C>G rs362392
NM_000021.4(PSEN1):c.*3831C>T rs362395
NM_000021.4(PSEN1):c.1386C>T (p.Phe462=)
NM_000021.4(PSEN1):c.549-4dup rs763991845
NM_000021.4(PSEN1):c.782T>G (p.Val261Gly) rs199723282
NM_000021.4(PSEN1):c.843G>C (p.Thr281=) rs186495252
NM_000021.4(PSEN1):c.87+252G>A rs34623110

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