ClinVar Miner

List of variants studied for Pick disease by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000021.3(PSEN1):c.-296C>T rs1800839
NM_000021.3(PSEN1):c.-528C>G rs34086577
NM_000021.3(PSEN1):c.104G>A (p.Arg35Gln) rs63750592
NM_000021.3(PSEN1):c.1148T>G (p.Leu383Trp)
NM_000021.3(PSEN1):c.1229G>A (p.Cys410Tyr) rs661
NM_000021.3(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.3(PSEN1):c.236C>T (p.Ala79Val) rs63749824
NM_000021.3(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000021.3(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.3(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.3(PSEN1):c.617G>C (p.Gly206Ala) rs63750082
NM_000021.3(PSEN1):c.626G>T (p.Gly209Val) rs63750053
NM_000021.3(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.3(PSEN1):c.806G>A (p.Arg269His) rs63750900
NM_000021.3(PSEN1):c.839A>C (p.Glu280Ala) rs63750231
NM_000021.3(PSEN1):c.869-2A>T
NM_000021.3(PSEN1):c.953A>G (p.Glu318Gly) rs17125721

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