ClinVar Miner

List of variants in gene HNRNPU reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_031844.3(HNRNPU):c.1214T>C (p.Val405Ala) rs936983140 0.00001
NM_031844.3(HNRNPU):c.1288G>A (p.Val430Ile) rs772732188 0.00001
NM_031844.3(HNRNPU):c.125T>C (p.Leu42Pro) rs1553284037
NM_031844.3(HNRNPU):c.1267A>C (p.Lys423Gln) rs2102986760
NM_031844.3(HNRNPU):c.1743G>A (p.Gln581=) rs1553282372
NM_031844.3(HNRNPU):c.1827A>C (p.Lys609Asn)
NM_031844.3(HNRNPU):c.1881C>G (p.Asp627Glu)
NM_031844.3(HNRNPU):c.2013A>C (p.Glu671Asp) rs373573514
NM_031844.3(HNRNPU):c.2168-8T>G rs1680658577
NM_031844.3(HNRNPU):c.2266G>C (p.Ala756Pro) rs1680654226
NM_031844.3(HNRNPU):c.2333A>G (p.Asn778Ser)
NM_031844.3(HNRNPU):c.2366G>A (p.Arg789Gln)
NM_031844.3(HNRNPU):c.2374A>C (p.Asn792His)
NM_031844.3(HNRNPU):c.313G>C (p.Glu105Gln)
NM_031844.3(HNRNPU):c.436G>C (p.Gly146Arg)
NM_031844.3(HNRNPU):c.479A>T (p.Glu160Val)
NM_031844.3(HNRNPU):c.551C>G (p.Ala184Gly) rs1680922433
NM_031844.3(HNRNPU):c.661_669del (p.Gly221_Gly223del)

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