ClinVar Miner

List of variants reported as pathogenic for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions by Mendelics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_002087.3(GRN):c.768_769dup (p.Gln257fs)
NM_002087.4(GRN):c.1402C>T (p.Gln468Ter) rs63749908
NM_016835.4(MAPT):c.1747C>G (p.Leu583Val) rs63750349
NM_016835.4(MAPT):c.1839T>C (p.Asn613=) rs63750912
NM_016835.4(MAPT):c.1866T>C (p.Ser622=) rs63750568

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