ClinVar Miner

List of variants in gene TRAK1 reported as pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001042646.3(TRAK1):c.986T>C (p.Leu329Pro) rs770281448 0.00001
NM_001042646.3(TRAK1):c.1759dup (p.His587fs) rs1559390743
NM_001042646.3(TRAK1):c.287-2A>C rs1559877920
NM_001042646.3(TRAK1):c.287-2A>G rs1559877920

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