ClinVar Miner

List of variants studied for hereditary dementia by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (231):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) rs63750687
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg) rs1557055405
NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter) rs751093906
NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter) rs1563452941
NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter) rs387906653
NM_001257180.2(SLC20A2):c.935-2A>G rs1586025869
NM_002608.4(PDGFB):c.598C>T (p.Arg200Ter) rs1932260742
NM_003560.2(PLA2G6):c.-545_-46+1931delinsCGATCTC
NM_003560.4(PLA2G6):c.2035-926G>A
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg) rs151344517
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del) rs1590955348
NM_007126.5(VCP):c.397G>T (p.Val133Leu)
NM_022089.4(ATP13A2):c.1749+442_2251+512del
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter) rs374052333
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr) rs368751524
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435

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