ClinVar Miner

List of variants studied for Alzheimer disease by Human Genetics Group at Institute of Prion Diseases London, University College London

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.1177G>T (p.Val393Phe) rs1566656702
NM_000021.4(PSEN1):c.1297C>T (p.Pro433Ser) rs1566657804
NM_000021.4(PSEN1):c.424G>A (p.Val142Ile) rs1566630910
NM_000021.4(PSEN1):c.510_511insTAT (p.Ser170_Leu171insTyr) rs1566638673
NM_000021.4(PSEN1):c.665A>C (p.Gln222Pro) rs63750009
NM_000021.4(PSEN1):c.869-1G>A rs63750219
NM_001288705.3(CSF1R):c.2326C>T (p.His776Tyr) rs1561905293
NM_001288705.3(CSF1R):c.2671G>C (p.Ala891Pro) rs1561901881
NM_001377265.1(MAPT):c.2260C>T (p.His754Tyr) rs1568339995
NM_002087.4(GRN):c.264+1G>A rs1567885728
NM_007126.5(VCP):c.409C>T (p.Pro137Ser) rs866101707

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