ClinVar Miner

List of variants studied for autosomal recessive non-syndromic intellectual disability by Provincial Medical Genetics Program of British Columbia, University of British Columbia

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_024298.5(MBOAT7):c.497C>T (p.Pro166Leu) rs1233952774 0.00002
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly) rs2118977758
NM_024298.5(MBOAT7):c.971_985del (p.Val324_Leu328del) rs2146977904

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