ClinVar Miner

List of variants studied for Urofacial syndrome type 1 by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_021828.5(HPSE2):c.1736A>T (p.Tyr579Phe) rs10883100 0.53113
NM_021828.5(HPSE2):c.1614-23C>T rs11189618 0.53048
NM_021828.5(HPSE2):c.*17C>T rs10883099 0.52995

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