ClinVar Miner

List of variants in gene combination URGCP, URGCP-MRPS24 reported by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001077663.3(URGCP):c.2649C>T (p.His883=) rs61732517 0.02046
NM_001077663.3(URGCP):c.1728G>A (p.Arg576=) rs2232101 0.01864
NM_001077663.3(URGCP):c.2280C>T (p.Ala760=) rs2232107 0.01862
NM_001077663.3(URGCP):c.1597C>T (p.Leu533=) rs7807549 0.01813
NM_001077663.3(URGCP):c.1458G>A (p.Ser486=) rs2232098 0.01677
NM_001077663.3(URGCP):c.1803C>T (p.Asp601=) rs2232104 0.00837
NM_001077663.3(URGCP):c.784G>A (p.Ala262Thr) rs114117271 0.00768
NM_001077663.3(URGCP):c.1719C>A (p.Gly573=) rs2232100 0.00585

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