ClinVar Miner

List of variants reported as uncertain significance for central nervous system malformation by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_004958.4(MTOR):c.4606A>G (p.Ile1536Val) rs886041096
NM_004958.4(MTOR):c.505-2A>G rs869312706
NM_207346.3(TSEN54):c.503T>G (p.Val168Gly) rs2147009566

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