ClinVar Miner

List of variants reported as pathogenic for Wolcott-Rallison dysplasia by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004836.7(EIF2AK3):c.1035dup (p.Lys346Ter) rs869025178
NM_004836.7(EIF2AK3):c.1570_1573del (p.Lys523_Glu524insTer) rs1558652941
NM_004836.7(EIF2AK3):c.1763G>A (p.Arg588Gln) rs121908569
NM_004836.7(EIF2AK3):c.2985+1G>A rs869025179
NM_004836.7(EIF2AK3):c.994G>T (p.Glu332Ter) rs121908570

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