ClinVar Miner

List of variants reported as uncertain significance for Urofacial syndrome type 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_021828.5(HPSE2):c.1168A>G (p.Thr390Ala) rs146794713 0.00003
NM_021828.5(HPSE2):c.145G>A (p.Val49Ile) rs199531515 0.00003
NM_021828.5(HPSE2):c.211G>A (p.Val71Ile) rs745645944 0.00003
NM_021828.5(HPSE2):c.1750G>A (p.Val584Ile) rs767659736 0.00002
NM_021828.5(HPSE2):c.1696G>A (p.Gly566Ser) rs577966759 0.00001
NM_021828.5(HPSE2):c.666A>G (p.Ile222Met) rs1949565459 0.00001
NM_021828.5(HPSE2):c.799C>T (p.Arg267Trp) rs753039198 0.00001
NM_021828.5(HPSE2):c.815G>A (p.Arg272Gln) rs376543806 0.00001
NM_021828.5(HPSE2):c.1070T>A (p.Leu357His)
NM_021828.5(HPSE2):c.1172A>G (p.Asn391Ser)
NM_021828.5(HPSE2):c.1181C>T (p.Ser394Phe)
NM_021828.5(HPSE2):c.1183G>A (p.Asp395Asn)
NM_021828.5(HPSE2):c.1198G>A (p.Gly400Arg)
NM_021828.5(HPSE2):c.119A>C (p.Gln40Pro)
NM_021828.5(HPSE2):c.119A>G (p.Gln40Arg) rs201180054
NM_021828.5(HPSE2):c.11T>C (p.Leu4Pro)
NM_021828.5(HPSE2):c.1269T>G (p.Phe423Leu)
NM_021828.5(HPSE2):c.1275C>G (p.Asp425Glu)
NM_021828.5(HPSE2):c.1277A>G (p.His426Arg)
NM_021828.5(HPSE2):c.127G>A (p.Asp43Asn)
NM_021828.5(HPSE2):c.1290C>A (p.His430Gln)
NM_021828.5(HPSE2):c.1294G>A (p.Val432Met)
NM_021828.5(HPSE2):c.1296G>C (p.Val432=)
NM_021828.5(HPSE2):c.1301A>G (p.Gln434Arg)
NM_021828.5(HPSE2):c.1312C>T (p.Pro438Ser)
NM_021828.5(HPSE2):c.1320+5G>A
NM_021828.5(HPSE2):c.1321G>A (p.Asp441Asn)
NM_021828.5(HPSE2):c.1348C>T (p.Arg450Cys)
NM_021828.5(HPSE2):c.1357G>A (p.Gly453Ser)
NM_021828.5(HPSE2):c.1403C>T (p.Pro468Leu)
NM_021828.5(HPSE2):c.1414C>G (p.Arg472Gly)
NM_021828.5(HPSE2):c.1415G>A (p.Arg472Gln)
NM_021828.5(HPSE2):c.1417G>A (p.Val473Met)
NM_021828.5(HPSE2):c.143C>T (p.Pro48Leu) rs1023844303
NM_021828.5(HPSE2):c.1460A>G (p.His487Arg)
NM_021828.5(HPSE2):c.1481G>A (p.Arg494His)
NM_021828.5(HPSE2):c.1481G>T (p.Arg494Leu)
NM_021828.5(HPSE2):c.1487C>A (p.Ser496Tyr)
NM_021828.5(HPSE2):c.1613+3A>G
NM_021828.5(HPSE2):c.1613+4C>T
NM_021828.5(HPSE2):c.1613+5G>A
NM_021828.5(HPSE2):c.1649T>C (p.Val550Ala)
NM_021828.5(HPSE2):c.1673T>G (p.Leu558Trp)
NM_021828.5(HPSE2):c.1681C>A (p.Arg561Ser)
NM_021828.5(HPSE2):c.1682G>A (p.Arg561His)
NM_021828.5(HPSE2):c.1700G>A (p.Arg567Gln)
NM_021828.5(HPSE2):c.1730G>T (p.Gly577Val)
NM_021828.5(HPSE2):c.1742T>C (p.Val581Ala)
NM_021828.5(HPSE2):c.1745A>G (p.Lys582Arg)
NM_021828.5(HPSE2):c.1774C>T (p.Arg592Ter)
NM_021828.5(HPSE2):c.1775G>A (p.Arg592Gln)
NM_021828.5(HPSE2):c.22C>G (p.Pro8Ala) rs776971277
NM_021828.5(HPSE2):c.28G>T (p.Ala10Ser)
NM_021828.5(HPSE2):c.373T>C (p.Phe125Leu)
NM_021828.5(HPSE2):c.470C>A (p.Ala157Asp)
NM_021828.5(HPSE2):c.522G>A (p.Leu174=)
NM_021828.5(HPSE2):c.541G>C (p.Ala181Pro)
NM_021828.5(HPSE2):c.55C>A (p.Pro19Thr)
NM_021828.5(HPSE2):c.563T>C (p.Leu188Pro)
NM_021828.5(HPSE2):c.601A>C (p.Ile201Leu)
NM_021828.5(HPSE2):c.624C>G (p.Asp208Glu)
NM_021828.5(HPSE2):c.680C>G (p.Ala227Gly)
NM_021828.5(HPSE2):c.688C>T (p.Arg230Cys)
NM_021828.5(HPSE2):c.702C>T (p.Asn234=)
NM_021828.5(HPSE2):c.71C>T (p.Pro24Leu)
NM_021828.5(HPSE2):c.750C>A (p.Ser250Arg)
NM_021828.5(HPSE2):c.755A>G (p.Lys252Arg)
NM_021828.5(HPSE2):c.765T>G (p.Ile255Met)
NM_021828.5(HPSE2):c.790A>G (p.Asn264Asp)
NM_021828.5(HPSE2):c.839G>T (p.Gly280Val)
NM_021828.5(HPSE2):c.880C>T (p.Arg294Trp)
NM_021828.5(HPSE2):c.892A>G (p.Arg298Gly)
NM_021828.5(HPSE2):c.915T>A (p.Asn305Lys)
NM_021828.5(HPSE2):c.951A>G (p.Leu317=)
NM_021828.5(HPSE2):c.956+7C>G

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