ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
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.*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.*2864A>C rs362389 0.05717
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.*328C>T rs200067194 0.00074
NM_000021.4(PSEN1):c.*71A>G rs201452973 0.00053
NM_000021.4(PSEN1):c.-191C>T rs199680675 0.00053
NM_000021.4(PSEN1):c.*230G>T rs200692223 0.00049
NM_000021.4(PSEN1):c.*807G>A rs202083888 0.00049
NM_000021.4(PSEN1):c.-180C>T rs200632899 0.00046
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669 0.00041
NM_000021.4(PSEN1):c.*3848G>C rs886050682 0.00039
NM_000021.4(PSEN1):c.*2604C>T rs773295728 0.00038
NM_000021.4(PSEN1):c.*3328C>G rs181726819 0.00038
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707 0.00037
NM_000021.4(PSEN1):c.*1585A>T rs185405511 0.00035
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.*2659A>T rs531711335 0.00029
NM_000021.4(PSEN1):c.*4078C>T rs533047073 0.00029
NM_000021.4(PSEN1):c.*4367T>C rs574271978 0.00028
NM_000021.4(PSEN1):c.*2325A>G rs546052493 0.00026
NM_000021.4(PSEN1):c.*768A>G rs200194433 0.00025
NM_000021.4(PSEN1):c.*3130C>T rs550055242 0.00023
NM_000021.4(PSEN1):c.*1625A>G rs750857788 0.00020
NM_000021.4(PSEN1):c.*4095A>G rs369540718 0.00015
NM_000021.4(PSEN1):c.*390T>G rs200372973 0.00014
NM_000021.4(PSEN1):c.*1316G>T rs909535762 0.00013
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_000021.3(PSEN1):c.-226C>A rs200531676 0.00010
NM_000021.4(PSEN1):c.*1418G>A rs886050668 0.00010
NM_000021.4(PSEN1):c.*2865C>A rs886050679 0.00010
NM_000021.4(PSEN1):c.*1980C>T rs188214574 0.00009
NM_000021.4(PSEN1):c.*1874G>T rs141117435 0.00007
NM_000021.4(PSEN1):c.*265A>G rs199643125 0.00007
NM_000021.4(PSEN1):c.*2846G>A rs370528248 0.00007
NM_000021.4(PSEN1):c.*1380C>T rs181825217 0.00006
NM_000021.4(PSEN1):c.*1725A>G rs886050671 0.00006
NM_000021.4(PSEN1):c.*211G>A rs200186908 0.00006
NM_000021.4(PSEN1):c.*2161G>A rs535590491 0.00006
NM_000021.4(PSEN1):c.*229C>T rs199738569 0.00006
NM_000021.4(PSEN1):c.*2543C>T rs138620990 0.00006
NM_000021.4(PSEN1):c.337C>T (p.Leu113=) rs201500006 0.00006
NM_000021.4(PSEN1):c.*119T>C rs201908084 0.00005
NM_000021.4(PSEN1):c.*3789G>A rs867100875 0.00005
NM_000021.4(PSEN1):c.*4338A>G rs1032264220 0.00005
NM_000021.3(PSEN1):c.-214T>G rs886050662 0.00004
NM_000021.4(PSEN1):c.*1415C>A rs574671310 0.00004
NM_000021.4(PSEN1):c.*1889A>G rs1220105113 0.00004
NM_000021.4(PSEN1):c.*2017A>T rs538178628 0.00004
NM_000021.4(PSEN1):c.*2401C>T rs886050676 0.00004
NM_000021.4(PSEN1):c.*3199C>T rs371718090 0.00004
NM_000021.4(PSEN1):c.*1792T>C rs886050672 0.00003
NM_000021.4(PSEN1):c.*1958T>C rs779158922 0.00003
NM_000021.4(PSEN1):c.*2160C>T rs886050674 0.00003
NM_000021.4(PSEN1):c.*2330G>T rs886050675 0.00003
NM_000021.4(PSEN1):c.*2836C>T rs886050678 0.00003
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr) rs199715992 0.00003
NM_000021.4(PSEN1):c.21G>A (p.Pro7=) rs116466962 0.00003
NM_000021.4(PSEN1):c.*1360G>C rs886050667 0.00002
NM_000021.4(PSEN1):c.*1626C>A rs886050669 0.00001
NM_000021.4(PSEN1):c.*2357T>A rs1250635285 0.00001
NM_000021.4(PSEN1):c.*23T>C rs886050664 0.00001
NM_000021.4(PSEN1):c.*3619A>G rs886050681 0.00001
NM_000021.4(PSEN1):c.*3669G>A rs748848893 0.00001
NM_000021.4(PSEN1):c.*4339T>C rs757221245 0.00001
NM_000021.4(PSEN1):c.1167C>T (p.Tyr389=) rs1899950667 0.00001
NM_000021.4(PSEN1):c.784T>C (p.Leu262=) rs1369926746 0.00001
NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys) rs886050663 0.00001
NM_000021.4(PSEN1):c.80G>A (p.Arg27His) rs149562759 0.00001
NM_000021.3(PSEN1):c.-241G>T rs886050661
NM_000021.4(PSEN1):c.*1145G>A rs886050666
NM_000021.4(PSEN1):c.*1484A>C rs147866042
NM_000021.4(PSEN1):c.*1716TATGA[4] rs886050670
NM_000021.4(PSEN1):c.*1858T>A rs1943770310
NM_000021.4(PSEN1):c.*1867ACAG[1] rs563773430
NM_000021.4(PSEN1):c.*1884G>T rs1900111689
NM_000021.4(PSEN1):c.*1910A>G rs1900112018
NM_000021.4(PSEN1):c.*2633G>A rs564490926
NM_000021.4(PSEN1):c.*2695G>A rs1900127252
NM_000021.4(PSEN1):c.*2758T>G rs886050677
NM_000021.4(PSEN1):c.*3033CT[2] rs886050680
NM_000021.4(PSEN1):c.*3321G>C rs983079104
NM_000021.4(PSEN1):c.*3484A>C rs1900141899
NM_000021.4(PSEN1):c.*3538C>G rs362392
NM_000021.4(PSEN1):c.*360A>C rs202176028
NM_000021.4(PSEN1):c.*3831C>T rs362395
NM_000021.4(PSEN1):c.*400G>A rs1190503987
NM_000021.4(PSEN1):c.*438C>T rs1900072345
NM_000021.4(PSEN1):c.*562T>C rs1594760800
NM_000021.4(PSEN1):c.*595T>C rs886050665
NM_000021.4(PSEN1):c.*657C>T rs201752111
NM_000021.4(PSEN1):c.*801C>T rs201513640
NM_000021.4(PSEN1):c.-201A>C rs1896745950
NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln) rs367775281
NM_000021.4(PSEN1):c.375G>C (p.Val125=) rs1897955823
NM_000021.4(PSEN1):c.792G>T (p.Pro264=) rs150301281
NM_000021.4(PSEN1):c.843G>A (p.Thr281=) rs186495252

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