ClinVar Miner

List of variants studied for X-linked intellectual disability-hypotonia-movement disorder syndrome by Broad Institute Rare Disease Group, Broad Institute

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys) rs1064795323
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter) rs1602126980
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001356.5(DDX3X):c.599A>G (p.Tyr200Cys)
NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)

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