ClinVar Miner

List of variants studied for Urofacial syndrome type 1

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Total variants: 26
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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
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.1414C>T (p.Arg472Ter) rs267606864 0.00002
NM_021828.5(HPSE2):c.1099-1G>A rs184270108 0.00001
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter) rs267606866 0.00001
NM_021828.5(HPSE2):c.1696G>A (p.Gly566Ser) rs577966759 0.00001
NM_021828.5(HPSE2):c.457C>T (p.Arg153Ter) rs267606865 0.00001
NM_021828.5(HPSE2):c.815G>A (p.Arg272Gln) rs376543806 0.00001
NG_023416.2:g.(88604_176551)_(176714_576894)del
NM_021828.5(HPSE2):c.1628A>T (p.Asn543Ile) rs397515452
NM_021828.5(HPSE2):c.241_242del (p.Leu81fs) rs1469962264
NM_021828.5(HPSE2):c.429T>A (p.Tyr143Ter) rs2133951833
NM_021828.5(HPSE2):c.55C>T (p.Pro19Ser) rs78935940
NM_021828.5(HPSE2):c.57dup (p.Ala20fs) rs778121647
NM_021828.5(HPSE2):c.902T>A (p.Leu301Ter) rs2134250333
NM_021828.5:c.1099-4166_1320+840delins23

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