ClinVar Miner

List of variants reported as likely benign for Urofacial syndrome type 1

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_021828.5(HPSE2):c.957-28_957-19dup rs113633161 0.04498
NM_021828.5(HPSE2):c.1194T>C (p.Ala398=) rs111762231 0.00507
NM_021828.5(HPSE2):c.290+7C>T rs72840396 0.00169
NM_021828.5(HPSE2):c.273C>A (p.Gly91=) rs115042847 0.00156
NM_021828.5(HPSE2):c.1476C>T (p.Tyr492=) rs140154839 0.00137
NM_021828.5(HPSE2):c.1154C>T (p.Thr385Ile) rs200583760 0.00063
NM_021828.5(HPSE2):c.573G>A (p.Glu191=) rs148098032 0.00042
NM_021828.5(HPSE2):c.1099-9T>C rs376566722 0.00034

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