ClinVar Miner

List of variants in gene MLXIPL studied for syndrome caused by partial chromosomal deletion

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_032951.3(MLXIPL):c.1096T>C (p.Leu366=) rs190197045 0.00595
NM_032951.3(MLXIPL):c.1537G>A (p.Ala513Thr) rs200391124 0.00214

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