ClinVar Miner

List of variants studied for hereditary dementia by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (231):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000033.4(ABCD1):c.935A>G (p.Asp312Gly)
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_001257180.2(SLC20A2):c.731-18_738del rs1234999465

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