ClinVar Miner

List of variants studied for syndromic intellectual disability by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr) rs373279555 0.00001
NM_006517.5(SLC16A2):c.394G>T (p.Glu132Ter)
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936

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