ClinVar Miner

List of variants studied for Wolcott-Rallison dysplasia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165 0.76783
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.71334
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=) rs1805164 0.28054
NM_004836.7(EIF2AK3):c.1763+6A>T rs6750998 0.22566

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