ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Hadassah Hebrew University Medical Center

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001367561.1(DOCK7):c.5101C>T (p.Arg1701Ter) rs1419019482 0.00001
NM_003705.5(SLC25A12):c.326-2A>C rs1573977142
NM_016359.5(NUSAP1):c.1209C>A (p.Tyr403Ter) rs2140875089
NM_016373.4(WWOX):c.108-2A>T rs1597207802
NM_152743.4(BRAT1):c.393_422dup (p.Gln132_Ala141dup) rs1562582216

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