ClinVar Miner

List of variants in gene DDHD1 reported as pathogenic by Paris Brain Institute, Inserm - ICM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001160148.2(DDHD1):c.246del (p.Cys83fs) rs2139938826
NM_001160148.2(DDHD1):c.395dup (p.Gly133fs) rs748385953
NM_001160148.2(DDHD1):c.510G>A (p.Trp170Ter) rs1891509468

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