ClinVar Miner

List of variants studied for hereditary dementia by Clinical Genomics Laboratory, Washington University in St. Louis

Included ClinVar conditions (238):
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.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802 0.00003
NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile) rs2125159718
NM_005861.4(STUB1):c.669+4A>T

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