ClinVar Miner

List of variants reported as likely benign for Alzheimer disease 4 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_000447.3(PSEN2):c.162G>C (p.Glu54Asp) rs146894466 0.00063
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057 0.00050
NM_000447.3(PSEN2):c.754G>A (p.Ala252Thr) rs138836272 0.00041
NM_000447.3(PSEN2):c.690C>G (p.Ala230=) rs145010538 0.00033
NM_000447.3(PSEN2):c.520A>G (p.Met174Val) rs61757781 0.00031
NM_000447.3(PSEN2):c.753C>T (p.Ser251=) rs200332829 0.00026
NM_000447.3(PSEN2):c.954C>T (p.Pro318=) rs199587016 0.00022
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg) rs143501870 0.00018
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser) rs188598190 0.00018
NM_000447.3(PSEN2):c.66G>A (p.Ser22=) rs367645069 0.00017
NM_000447.3(PSEN2):c.165C>T (p.Asp55=) rs139332886 0.00013
NM_000447.3(PSEN2):c.207C>T (p.Pro69=) rs142546082 0.00013
NM_000447.3(PSEN2):c.1163C>T (p.Thr388Met) rs143549266 0.00011
NM_000447.3(PSEN2):c.300C>T (p.Ile100=) rs200801915 0.00010
NM_000447.3(PSEN2):c.639A>G (p.Ala213=) rs555809980 0.00006
NM_000447.3(PSEN2):c.505C>A (p.His169Asn) rs533813519 0.00004
NM_000447.3(PSEN2):c.1011C>T (p.Pro337=) rs769386876 0.00003
NM_000447.3(PSEN2):c.156C>T (p.Asn52=) rs749675208 0.00003
NM_000447.3(PSEN2):c.177C>T (p.Asp59=) rs767577993 0.00002
NM_000447.3(PSEN2):c.279G>C (p.Val93=) rs200350640 0.00002
NM_000447.3(PSEN2):c.390G>C (p.Ser130=) rs781597971 0.00002
NM_000447.3(PSEN2):c.1140G>A (p.Thr380=) rs377494557 0.00001
NM_000447.3(PSEN2):c.1269G>A (p.Gly423=) rs748435174 0.00001
NM_000447.3(PSEN2):c.1284C>T (p.Phe428=) rs144318314 0.00001
NM_000447.3(PSEN2):c.201G>C (p.Gly67=) rs1661152624 0.00001
NM_000447.3(PSEN2):c.273G>C (p.Leu91=) rs921254742 0.00001
NM_000447.3(PSEN2):c.372C>T (p.Phe124=) rs753371172 0.00001
NM_000447.3(PSEN2):c.711G>A (p.Ala237=) rs202003390 0.00001
NM_000447.3(PSEN2):c.787+8G>A rs751014475 0.00001
NM_000447.3(PSEN2):c.1005A>G (p.Ser335=)
NM_000447.3(PSEN2):c.1005A>T (p.Ser335=)
NM_000447.3(PSEN2):c.1023G>A (p.Glu341=)
NM_000447.3(PSEN2):c.1073-10C>T rs201191318
NM_000447.3(PSEN2):c.1092C>T (p.Leu364=)
NM_000447.3(PSEN2):c.1139C>A (p.Thr380Lys) rs143912759
NM_000447.3(PSEN2):c.1164G>C (p.Thr388=) rs369274454
NM_000447.3(PSEN2):c.1191+8G>C
NM_000447.3(PSEN2):c.1209C>G (p.Leu403=)
NM_000447.3(PSEN2):c.1236G>A (p.Ala412=)
NM_000447.3(PSEN2):c.1242C>T (p.Pro414=)
NM_000447.3(PSEN2):c.1257C>T (p.Ser419=) rs2102698755
NM_000447.3(PSEN2):c.1269G>T (p.Gly423=)
NM_000447.3(PSEN2):c.1303C>T (p.Arg435Trp)
NM_000447.3(PSEN2):c.141+11C>G rs1249275874
NM_000447.3(PSEN2):c.142-16A>C
NM_000447.3(PSEN2):c.142-17G>A
NM_000447.3(PSEN2):c.216G>A (p.Pro72=)
NM_000447.3(PSEN2):c.255G>A (p.Ala85=)
NM_000447.3(PSEN2):c.294C>T (p.Cys98=)
NM_000447.3(PSEN2):c.306G>A (p.Val102=)
NM_000447.3(PSEN2):c.348T>C (p.Asn116=)
NM_000447.3(PSEN2):c.356+11_356+13del
NM_000447.3(PSEN2):c.387C>T (p.Pro129=)
NM_000447.3(PSEN2):c.390G>A (p.Ser130=)
NM_000447.3(PSEN2):c.519C>T (p.Ile173=) rs2102682546
NM_000447.3(PSEN2):c.537G>A (p.Leu179=)
NM_000447.3(PSEN2):c.54G>A (p.Thr18=)
NM_000447.3(PSEN2):c.588T>C (p.Asn196=)
NM_000447.3(PSEN2):c.633C>T (p.Phe211=)
NM_000447.3(PSEN2):c.744A>G (p.Pro248=)
NM_000447.3(PSEN2):c.788-14C>T
NM_000447.3(PSEN2):c.843C>T (p.Ala281=) rs2102686884
NM_000447.3(PSEN2):c.886+15C>T
NM_000447.3(PSEN2):c.887-4C>G
NM_000447.3(PSEN2):c.971-18C>T
NM_000447.3(PSEN2):c.971-9G>C rs2102690274

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