ClinVar Miner

List of variants in gene PSEN2 reported as benign for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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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.211C>T (p.Arg71Trp) rs140501902 0.00349
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.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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