ClinVar Miner

List of variants in gene PSEN1 reported as uncertain significance for acne inversa, familial, 3

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)
NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp) rs1566656647
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val)
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg)
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu)
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln)
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala)

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