ClinVar Miner

List of variants studied for neurodevelopmental disorder with severe motor impairment and absent language by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_138615.3(DHX30):c.2006-6T>C rs2037665289
NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp) rs753242774
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys) rs1085307451

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