ClinVar Miner

List of variants studied for hereditary dementia by Department of Medical Biology, Faculty of Medicine, Hacettepe University

Included ClinVar conditions (231):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1214G>C (p.Ser405Thr) rs1392291885
NM_000157.4(GBA1):c.1238A>C (p.His413Pro) rs911331923
NM_000157.4(GBA1):c.403_404del (p.Leu135fs) rs1671970302
NM_000157.4(GBA1):c.557del (p.Phe186fs) rs1671890998

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