ClinVar Miner

List of variants studied for syndromic intellectual disability by NeuroMeGen, Hospital Clinico Santiago de Compostela

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474 0.00038
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg) rs1556389083
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser) rs1555976973
NM_006950.3(SYN1):c.376T>A (p.Trp126Arg) rs1556861783

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