ClinVar Miner

List of variants in gene PSEN1 reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721 0.01497
NM_000021.4(PSEN1):c.321C>G (p.Thr107=) rs139863395 0.00150
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707 0.00037
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082 0.00012
NM_000021.4(PSEN1):c.96T>C (p.Asn32=) rs201759335 0.00006
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824 0.00004
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val) rs764971634 0.00002
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900 0.00001
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro) rs63751174
NM_000021.4(PSEN1):c.1141C>A (p.Leu381Ile) rs63750687
NM_000021.4(PSEN1):c.1158C>A (p.Phe386Leu) rs1555358095
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val) rs63751416
NM_000021.4(PSEN1):c.1184A>T (p.Lys395Ile)
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val) rs63750083
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys) rs281875357
NM_000021.4(PSEN1):c.1306C>T (p.Pro436Ser) rs63749925
NM_000021.4(PSEN1):c.338+1del rs63751475
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000021.4(PSEN1):c.358G>A (p.Glu120Lys) rs63750800
NM_000021.4(PSEN1):c.389T>C (p.Leu130Pro) rs1566630838
NM_000021.4(PSEN1):c.403A>T (p.Asn135Tyr) rs63750353
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr) rs63750004
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) rs63750391
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.496C>T (p.Leu166Phe)
NM_000021.4(PSEN1):c.519G>T (p.Leu173Phe)
NM_000021.4(PSEN1):c.525C>G (p.Phe175Leu) rs1566638724
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr) rs1555355250
NM_000021.4(PSEN1):c.689G>A (p.Ser230Asn) rs1555355284
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000021.4(PSEN1):c.697A>C (p.Met233Leu)
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val) rs63751130
NM_000021.4(PSEN1):c.714C>G (p.Ile238Met) rs1555355289
NM_000021.4(PSEN1):c.715A>G (p.Lys239Glu) rs1595035012
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu) rs1362575880
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala) rs199723282
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe) rs63750248
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000021.4(PSEN1):c.799C>G (p.Pro267Ala) rs63751229
NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser) rs63751229
NM_000021.4(PSEN1):c.823G>C (p.Ala275Pro) rs1555355866
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val) rs63751235

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