ClinVar Miner

List of variants studied for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_002087.3(GRN):c.146G>A (p.Trp49Ter)
NM_002087.3(GRN):c.349+1G>C
NM_002087.3(GRN):c.424dup (p.Met142fs)
NM_002087.3(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.3(GRN):c.708+1G>A rs63749817
NM_002087.3(GRN):c.709-4_713del
NM_002087.3(GRN):c.753_754TG[3] (p.Cys253_Asp254delinsTer) rs63751035
NM_002087.3(GRN):c.918C>A (p.Cys306Ter)
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.264G>A (p.Glu88=) rs63751166
NM_002087.4(GRN):c.328C>T (p.Arg110Ter) rs63750411
NM_002087.4(GRN):c.709-2A>G rs63750548
NM_016835.4(MAPT):c.1789_1791AAG[1] (p.Lys598del) rs63750688
NM_016835.4(MAPT):c.1853C>T (p.Pro618Leu) rs63751273
NM_016835.4(MAPT):c.1866+16C>T rs63751011
NM_016835.4(MAPT):c.1910C>T (p.Ser637Phe) rs63750635
NM_016835.4(MAPT):c.1959G>C (p.Gln653His)
NM_016835.4(MAPT):c.2041C>A (p.Pro681Thr)

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