ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 53 by Genome-Nilou Lab

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001127178.3(PIGG):c.2261+49A>T rs7697650 0.97007
NM_001127178.3(PIGG):c.571-563A>G rs4690182 0.87699
NM_001127178.3(PIGG):c.1989C>T (p.Ala663=) rs13150531 0.19173
NM_001127178.3(PIGG):c.1743T>C (p.Leu581=) rs7666226 0.19160
NM_001127178.3(PIGG):c.1828T>C (p.Cys610Arg) rs7666425 0.18999
NM_001127178.3(PIGG):c.2095G>A (p.Val699Ile) rs13114026 0.15552

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