ClinVar Miner

List of variants studied for hereditary dementia by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del) rs10560189
NM_001447.3(FAT2):c.1521T>G (p.Ile507Met) rs1758328376

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