ClinVar Miner

List of variants reported as pathogenic for Urofacial syndrome 1

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Total variants: 9
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NM_001166244.1(HPSE2):c.1291_1292del (p.Asn431fs) rs397515338
NM_001166244.1(HPSE2):c.235_236CT[3] (p.Leu81fs) rs1469962264
NM_001166245.1(HPSE2):c.448+87957C>T rs267606865
NM_001166246.1(HPSE2):c.*51A>T rs397515452
NM_021828.4(HPSE2):c.1414C>T (p.Arg472Ter) rs267606864
NM_021828.4(HPSE2):c.1516C>T (p.Arg506Ter) rs267606866
NM_021828.4(HPSE2):c.57dup (p.Ala20fs) rs778121647

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