ClinVar Miner

List of variants studied for Urofacial syndrome type 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 14
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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
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs) rs397515338 0.00019
NM_021828.5(HPSE2):c.1099-1G>A rs184270108 0.00001
NM_021828.5(HPSE2):c.1696G>A (p.Gly566Ser) rs577966759 0.00001
NM_021828.5(HPSE2):c.815G>A (p.Arg272Gln) rs376543806 0.00001
NM_021828.5(HPSE2):c.429T>A (p.Tyr143Ter) rs2133951833
NM_021828.5(HPSE2):c.57dup (p.Ala20fs) rs778121647

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