ClinVar Miner

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

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=) rs11537737 0.00632
NM_031844.3(HNRNPU):c.1215G>A (p.Val405=) rs147232928 0.00161
NM_031844.3(HNRNPU):c.2166A>C (p.Gly722=) rs140234240 0.00048
NM_031844.3(HNRNPU):c.1251A>G (p.Val417=) rs142767399 0.00041
NM_031844.3(HNRNPU):c.83A>G (p.Lys28Arg) rs200952460 0.00015
NM_031844.3(HNRNPU):c.1460G>C (p.Gly487Ala) rs199740131 0.00014
NM_031844.3(HNRNPU):c.621G>A (p.Gln207=) rs759528610 0.00013
NM_031844.3(HNRNPU):c.2227G>A (p.Gly743Ser) rs144984907 0.00011
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala) rs199596170 0.00008
NM_031844.3(HNRNPU):c.1996T>C (p.Leu666=) rs755861836 0.00002
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.132C>T (p.Asp44=) rs1260101788 0.00001
NM_031844.3(HNRNPU):c.2285G>A (p.Arg762His) rs768453396 0.00001
NM_031844.3(HNRNPU):c.2333A>G (p.Asn778Ser) rs1680652178 0.00001
NM_031844.3(HNRNPU):c.2374A>C (p.Asn792His) rs770010858 0.00001
NM_031844.3(HNRNPU):c.402C>T (p.Asp134=) rs1263252282 0.00001
NM_031844.3(HNRNPU):c.453C>T (p.Gly151=) rs757950940 0.00001
NM_031844.3(HNRNPU):c.489T>G (p.Pro163=) rs760562563 0.00001
NC_000001.11:g.244856852_244856858del rs1573330502
NM_031844.2(HNRNPU):c.2166_2167+1delAGG rs575582638
NM_031844.3(HNRNPU):c.1060_1061del (p.Asp353_Ile354insTer) rs2102987471
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.1447G>A (p.Asp483Asn)
NM_031844.3(HNRNPU):c.165del (p.Asn57fs) rs1680936726
NM_031844.3(HNRNPU):c.1743+5del rs2102985849
NM_031844.3(HNRNPU):c.1743G>A (p.Gln581=) rs1553282372
NM_031844.3(HNRNPU):c.17_33del (p.Val6fs) rs1558190933
NM_031844.3(HNRNPU):c.1827A>C (p.Lys609Asn) rs1313822619
NM_031844.3(HNRNPU):c.1829A>G (p.Asp610Gly)
NM_031844.3(HNRNPU):c.1852C>T (p.Gln618Ter) rs1680684866
NM_031844.3(HNRNPU):c.1881C>G (p.Asp627Glu) rs2527505510
NM_031844.3(HNRNPU):c.1919_1920del (p.Phe640fs)
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.2319_2320del (p.Gly774fs) rs1553282089
NM_031844.3(HNRNPU):c.2366G>A (p.Arg789Gln) rs749543331
NM_031844.3(HNRNPU):c.264AGAGGA[1] (p.Glu93_Glu94del) rs770670938
NM_031844.3(HNRNPU):c.313G>C (p.Glu105Gln) rs2527895441
NM_031844.3(HNRNPU):c.373_374delinsCC (p.Glu125Pro)
NM_031844.3(HNRNPU):c.418G>A (p.Glu140Lys) rs1680927279
NM_031844.3(HNRNPU):c.436G>C (p.Gly146Arg) rs980758296
NM_031844.3(HNRNPU):c.479A>T (p.Glu160Val) rs2527894888
NM_031844.3(HNRNPU):c.542A>C (p.Lys181Thr) rs747403316
NM_031844.3(HNRNPU):c.551C>G (p.Ala184Gly) rs1680922433
NM_031844.3(HNRNPU):c.645G>A (p.Lys215=) rs772389068
NM_031844.3(HNRNPU):c.661_669del (p.Gly221_Gly223del) rs2527893983
NM_031844.3(HNRNPU):c.697G>A (p.Gly233Ser) rs771487560
NM_031844.3(HNRNPU):c.918C>T (p.Leu306=) rs1326720206

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