ClinVar Miner

List of variants reported as likely benign for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707
NM_000021.4(PSEN1):c.366C>T (p.Thr122=) rs201644344
NM_000021.4(PSEN1):c.792G>T (p.Pro264=) rs150301281
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) rs121917809
NM_002087.3(GRN):c.1298G>A (p.Arg433Gln) rs114248177
NM_002087.3(GRN):c.393C>G (p.Phe131Leu) rs149180605
NM_002087.3(GRN):c.513C>T (p.Cys171=) rs147974849
NM_002087.3(GRN):c.723C>T (p.Ser241=) rs200408271
NM_002087.3(GRN):c.933+7A>T rs1598364800
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100
NM_002087.4(GRN):c.1341C>T (p.His447=) rs63750775
NM_002087.4(GRN):c.279G>A (p.Gly93=) rs63751088
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142
NM_016835.4(MAPT):c.1131C>A (p.Arg377=) rs776028517
NM_016835.4(MAPT):c.120C>T (p.Asp40=) rs191362093
NM_016835.4(MAPT):c.1280C>T (p.Ser427Phe) rs143956882
NM_016835.4(MAPT):c.1398G>A (p.Thr466=) rs139748238
NM_016835.4(MAPT):c.1403T>C (p.Ile468Thr) rs114635790
NM_016835.4(MAPT):c.1413G>A (p.Pro471=) rs201046056
NM_016835.4(MAPT):c.1482C>T (p.Pro494=) rs750910229
NM_016835.4(MAPT):c.748G>A (p.Ala250Thr) rs770014302
NM_016835.4(MAPT):c.798C>G (p.Pro266=) rs1382449748
NM_016835.4(MAPT):c.912C>T (p.His304=) rs142283842

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