ClinVar Miner

List of variants reported as uncertain significance for Alzheimer disease 4 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys) rs150400387 0.00029
NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr) rs148238688 0.00014
NM_000447.3(PSEN2):c.1177G>A (p.Val393Met) rs142690225 0.00011
NM_000447.3(PSEN2):c.1330C>T (p.His444Tyr) rs151048692 0.00011
NM_000447.3(PSEN2):c.956A>G (p.Tyr319Cys) rs547494670 0.00011
NM_000447.3(PSEN2):c.1304G>A (p.Arg435Gln) rs201922151 0.00006
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg) rs139972151 0.00005
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) rs63750110 0.00004
NM_000447.3(PSEN2):c.487C>T (p.Arg163Cys) rs200931244 0.00004
NM_000447.3(PSEN2):c.80C>T (p.Thr27Met) rs149354305 0.00004
NM_000447.3(PSEN2):c.85C>T (p.Arg29Cys) rs142892469 0.00004
NM_000447.3(PSEN2):c.415G>A (p.Val139Met) rs202178897 0.00003
NM_000447.3(PSEN2):c.1160C>T (p.Thr387Ile) rs867544084 0.00002
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met) rs63750666 0.00002
NM_000447.3(PSEN2):c.902C>T (p.Thr301Met) rs144277432 0.00002
NM_000447.3(PSEN2):c.928T>C (p.Ser310Pro) rs781436525 0.00002
NM_000447.3(PSEN2):c.1262C>T (p.Thr421Met) rs756609078 0.00001
NM_000447.3(PSEN2):c.203T>C (p.Val68Ala) rs765144719 0.00001
NM_000447.3(PSEN2):c.401G>A (p.Arg134His) rs756346917 0.00001
NM_000447.3(PSEN2):c.442G>A (p.Val148Ile) rs63750812 0.00001
NM_000447.3(PSEN2):c.448G>A (p.Val150Met) rs866044092 0.00001
NM_000447.3(PSEN2):c.482A>G (p.Lys161Arg) rs755101354 0.00001
NM_000447.3(PSEN2):c.683A>T (p.Gln228Leu) rs63750880 0.00001
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe) rs367855127 0.00001
NM_000447.3(PSEN2):c.887-3C>T rs1230394996 0.00001
NM_000447.3(PSEN2):c.1009C>T (p.Pro337Ser)
NM_000447.3(PSEN2):c.1040_1041del (p.Tyr347fs)
NM_000447.3(PSEN2):c.1046G>A (p.Gly349Glu) rs2102690580
NM_000447.3(PSEN2):c.1073-10C>G
NM_000447.3(PSEN2):c.1139C>T (p.Thr380Met) rs143912759
NM_000447.3(PSEN2):c.1240C>T (p.Pro414Ser)
NM_000447.3(PSEN2):c.1243G>A (p.Ala415Thr)
NM_000447.3(PSEN2):c.1307C>T (p.Pro436Leu)
NM_000447.3(PSEN2):c.139T>G (p.Trp47Gly) rs2102668369
NM_000447.3(PSEN2):c.165C>A (p.Asp55Glu)
NM_000447.3(PSEN2):c.194G>A (p.Cys65Tyr)
NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala) rs202133351
NM_000447.3(PSEN2):c.241C>T (p.Leu81Phe) rs1405799988
NM_000447.3(PSEN2):c.260_261delinsTT (p.His87Leu)
NM_000447.3(PSEN2):c.260_261inv (p.His87Arg)
NM_000447.3(PSEN2):c.277G>A (p.Val93Met) rs2102672691
NM_000447.3(PSEN2):c.298A>G (p.Ile100Val) rs1182707759
NM_000447.3(PSEN2):c.305T>C (p.Val102Ala) rs1571951543
NM_000447.3(PSEN2):c.328C>T (p.Arg110Cys)
NM_000447.3(PSEN2):c.348T>A (p.Asn116Lys)
NM_000447.3(PSEN2):c.349G>A (p.Gly117Arg)
NM_000447.3(PSEN2):c.38T>C (p.Val13Ala) rs766853710
NM_000447.3(PSEN2):c.427C>T (p.Leu143Phe)
NM_000447.3(PSEN2):c.436A>T (p.Ile146Phe)
NM_000447.3(PSEN2):c.499-15A>G
NM_000447.3(PSEN2):c.539T>C (p.Leu180Pro)
NM_000447.3(PSEN2):c.566G>C (p.Gly189Ala)
NM_000447.3(PSEN2):c.589G>A (p.Val197Met)
NM_000447.3(PSEN2):c.622G>A (p.Val208Ile)
NM_000447.3(PSEN2):c.671C>T (p.Pro224Leu) rs2102684411
NM_000447.3(PSEN2):c.713T>C (p.Leu238Pro)
NM_000447.3(PSEN2):c.81_82delinsAA (p.Pro28Thr) rs2102668085
NM_000447.3(PSEN2):c.842C>A (p.Ala281Asp)
NM_000447.3(PSEN2):c.850A>G (p.Arg284Gly) rs1208742830
NM_000447.3(PSEN2):c.864A>G (p.Ile288Met)
NM_000447.3(PSEN2):c.877A>T (p.Ile293Leu)
NM_000447.3(PSEN2):c.880T>G (p.Tyr294Asp)
NM_000447.3(PSEN2):c.893T>C (p.Met298Thr)
NM_000447.3(PSEN2):c.970+3_970+6del rs775692311

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