ClinVar Miner

List of variants studied for CHIME syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr) rs114670807 0.00083
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_004278.4(PIGL):c.593C>T (p.Pro198Leu) rs186275035 0.00005

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