ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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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=)
NM_000021.4(PSEN1):c.792G>T (p.Pro264=)
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) rs121917809
NM_000306.4(POU1F1):c.*139dup rs368061882
NM_000306.4(POU1F1):c.666-6C>T rs201995103
NM_002087.3(GRN):c.-45C>G rs563336550
NM_002087.3(GRN):c.-72G>T rs76783532
NM_002087.3(GRN):c.1298G>A (p.Arg433Gln) rs114248177
NM_002087.3(GRN):c.139-3T>C rs371119011
NM_002087.3(GRN):c.228C>T (p.Thr76=) rs144736470
NM_002087.3(GRN):c.264+7G>A rs60100877
NM_002087.3(GRN):c.268G>A (p.Val90Met)
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.546G>A (p.Thr182=) rs138473783
NM_002087.3(GRN):c.723C>T (p.Ser241=)
NM_002087.3(GRN):c.933+7A>T
NM_002087.4(GRN):c.1019A>T (p.His340Leu)
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412
NM_002087.4(GRN):c.1341C>T (p.His447=) rs63750775
NM_002087.4(GRN):c.1357G>A (p.Gly453Arg)
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647
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.384T>C (p.Asp128=) rs25646
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_006610.4(MASP2):c.*184C>T rs115750484
NM_006610.4(MASP2):c.1617T>C (p.Asn539=) rs72550845
NM_007375.3(TARDBP):c.*1008T>G rs141412238
NM_007375.3(TARDBP):c.*1081C>T rs184303021
NM_007375.3(TARDBP):c.*208G>A rs148414479
NM_007375.3(TARDBP):c.*2331A>G rs114897688
NM_007375.3(TARDBP):c.*2740G>A rs566658679
NM_007375.3(TARDBP):c.-12-10_-12-9del rs575825467
NM_007375.3(TARDBP):c.1098C>G (p.Ala366=) rs148325203
NM_007375.3(TARDBP):c.198T>C (p.Ala66=) rs61730366
NM_007375.3(TARDBP):c.238+9C>T rs376560308
NM_007375.3(TARDBP):c.675A>G (p.Pro225=) rs61741294
NM_014043.4(CHMP2B):c.*1190G>T rs115892684
NM_014043.4(CHMP2B):c.*1503G>C rs1060238
NM_014043.4(CHMP2B):c.*899T>A rs186472338
NM_016835.4(MAPT):c.1131C>A (p.Arg377=) rs776028517
NM_016835.4(MAPT):c.120C>T (p.Asp40=)
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=)
NM_016835.4(MAPT):c.748G>A (p.Ala250Thr)
NM_016835.4(MAPT):c.798C>G (p.Pro266=) rs1382449748
NM_016835.4(MAPT):c.912C>T (p.His304=)
NM_020814.3(MARCHF4):c.39G>C (p.Trp13Cys) rs145386484

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