ClinVar Miner

List of variants in gene DDHD1 reported as pathogenic for hereditary spastic paraplegia

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001160148.2(DDHD1):c.1754dup (p.Thr586fs) rs760208786 0.00003
NM_001160148.2(DDHD1):c.1044dup (p.Val349fs) rs1886604612
NM_001160148.2(DDHD1):c.1249C>T (p.Gln417Ter) rs2139675094
NM_001160148.2(DDHD1):c.1371G>A (p.Trp457Ter)
NM_001160148.2(DDHD1):c.1473del (p.Met491fs)
NM_001160148.2(DDHD1):c.1637_1638dup (p.Met547Ter) rs2139870889
NM_001160148.2(DDHD1):c.1729C>T (p.Arg577Ter)
NM_001160148.2(DDHD1):c.1766G>A (p.Arg589Gln) rs1446744416
NM_001160148.2(DDHD1):c.1824dup (p.Pro609fs)
NM_001160148.2(DDHD1):c.184del (p.Glu62fs)
NM_001160148.2(DDHD1):c.1874del (p.Pro624_Leu625insTer) rs2139850050
NM_001160148.2(DDHD1):c.1996del (p.Tyr666fs)
NM_001160148.2(DDHD1):c.246del (p.Cys83fs) rs2139938826
NM_001160148.2(DDHD1):c.2522-1G>T rs2139806225
NM_001160148.2(DDHD1):c.344dup (p.Leu115fs)
NM_001160148.2(DDHD1):c.395dup (p.Gly133fs) rs748385953
NM_001160148.2(DDHD1):c.456_463dup (p.His155fs)
NM_001160148.2(DDHD1):c.510G>A (p.Trp170Ter) rs1891509468
NM_001160148.2(DDHD1):c.5dup (p.Asn2fs) rs2139941138
NM_001160148.2(DDHD1):c.702_708del (p.Cys235fs)
NM_001160148.2(DDHD1):c.731del (p.His244fs)
NM_001160148.2(DDHD1):c.971del (p.Asn324fs) rs1887484564

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