ClinVar Miner

List of variants studied for hereditary dementia by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

Included ClinVar conditions (231):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000487.6(ARSA):c.1123_1126del (p.Leu375fs) rs398123412
NM_001080414.4(CCDC88C):c.3320ACA[1] (p.Asn1108del)
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His) rs104894699
NM_006796.3(AFG3L2):c.161T>G (p.Leu54Arg) rs2143234608
NM_006796.3(AFG3L2):c.2062C>T (p.Pro688Ser) rs797045221
NM_015215.4(CAMTA1):c.241G>A (p.Ala81Thr)

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