ClinVar Miner

List of variants studied for GRN-related frontotemporal lobar degeneration with Tdp43 inclusions by Mendelics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro) rs10445337 0.14666
NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp) rs17651549 0.14348
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe) rs143956882 0.00160
NM_001377265.1(MAPT):c.1834A>C (p.Thr612Pro) rs1598326279
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val) rs63750349
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=) rs63750912
NM_001377265.1(MAPT):c.2091T>C (p.Ser697=) rs63750568
NM_002087.4(GRN):c.1402C>T (p.Gln468Ter) rs63749908
NM_002087.4(GRN):c.350-50_350-47dup rs34424835
NM_002087.4(GRN):c.768_769dup (p.Gln257fs) rs1567887004
NM_002087.4(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.4(GRN):c.918C>A (p.Cys306Ter) rs1598364782
NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro) rs1570725499

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