ClinVar Miner

List of variants in gene PSEN2 reported as benign for Alzheimer disease 4

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) rs11405 0.77636
NM_000447.3(PSEN2):c.1191+24G>A rs2855562 0.54601
NM_000447.3(PSEN2):c.*270C>T rs8383 0.49189
NM_000447.3(PSEN2):c.261C>T (p.His87=) rs1046240 0.48653
NM_000447.3(PSEN2):c.129C>T (p.Asn43=) rs6759 0.48630
NM_000447.3(PSEN2):c.142-42G>A rs1295643 0.48629
NM_000447.3(PSEN2):c.-275C>T rs1295645 0.15385
NM_000447.3(PSEN2):c.-43C>T rs7961 0.08031
NM_000447.3(PSEN2):c.903G>T (p.Thr301=) rs6426553 0.03334
NM_000447.3(PSEN2):c.708T>C (p.Ser236=) rs61730652 0.03044
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281 0.01441
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_000447.3(PSEN2):c.*487G>C rs7962 0.01294
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142 0.00621
NM_000447.3(PSEN2):c.*405G>T rs116807339 0.00524
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=) rs115652716 0.00524
NM_000447.3(PSEN2):c.423C>T (p.Asn141=) rs116003409 0.00481
NM_000447.3(PSEN2):c.861C>T (p.Pro287=) rs75733498 0.00436
NM_000447.3(PSEN2):c.132T>A (p.Thr44=) rs143227762 0.00413
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) rs140501902 0.00349
NM_000447.3(PSEN2):c.1200T>C (p.Cys400=) rs138494303 0.00248
NM_000447.3(PSEN2):c.366G>A (p.Thr122=) rs148996705 0.00094
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_000447.3(PSEN2):c.754G>A (p.Ala252Thr) rs138836272 0.00041
NM_000447.3(PSEN2):c.100G>A (p.Gly34Ser) rs200636353 0.00019
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg) rs143501870 0.00018
NM_000447.3(PSEN2):c.886+16G>A rs202005802 0.00014
NM_000447.3(PSEN2):c.640G>T (p.Val214Leu) rs574125890 0.00011
NM_000447.3(PSEN2):c.415G>A (p.Val139Met) rs202178897 0.00003
NM_000447.3(PSEN2):c.142-29T>C rs1295644
NM_000447.3(PSEN2):c.498+30G>C rs2236910
NM_000447.3(PSEN2):c.887-24T>C rs2802267

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