ClinVar Miner

List of variants studied for GRN-related frontotemporal lobar degeneration with Tdp43 inclusions by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_198578.4(LRRK2):c.5647T>C (p.Phe1883Leu) rs762890407 0.00001
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile) rs1566630791
NM_001377265.1(MAPT):c.2091+16C>T rs63751011

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