ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000447.2(PSEN2):c.*536G>A rs16846619
NM_000447.3(PSEN2):c.*270C>T rs8383
NM_000447.3(PSEN2):c.-275C>T rs1295645
NM_000447.3(PSEN2):c.-338A>G rs6665033
NM_000447.3(PSEN2):c.-356A>G rs12758915
NM_000447.3(PSEN2):c.-43C>T rs7961
NM_000447.3(PSEN2):c.129C>T (p.Asn43=) rs6759
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334
NM_000447.3(PSEN2):c.261C>T (p.His87=) rs1046240
NM_000447.3(PSEN2):c.279G>C (p.Val93=) rs200350640
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) rs11405
NM_000447.3(PSEN2):c.708T>C (p.Ser236=) rs61730652
NM_000447.3(PSEN2):c.861C>T (p.Pro287=) rs75733498
NM_000447.3(PSEN2):c.903G>T (p.Thr301=) rs6426553
NM_012486.2(PSEN2):c.-400C>T rs186308126

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