ClinVar Miner

List of variants in gene PSEN1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NC_000014.9:g.73133653A>G rs562520783 0.00096
NM_000021.4(PSEN1):c.1357G>A (p.Val453Ile) rs1064797190 0.00001
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro) rs63751174
NM_000021.4(PSEN1):c.643T>C (p.Trp215Arg) rs1064797189

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