ClinVar Miner

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

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=) rs11537737 0.00657
NM_031844.3(HNRNPU):c.2166A>C (p.Gly722=) rs140234240 0.00048
NM_031844.3(HNRNPU):c.1251A>G (p.Val417=) rs142767399 0.00045
NM_031844.3(HNRNPU):c.83A>G (p.Lys28Arg) rs200952460 0.00015
NM_031844.3(HNRNPU):c.621G>A (p.Gln207=) rs759528610 0.00013
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala) rs199596170 0.00007
NM_031844.3(HNRNPU):c.1460G>C (p.Gly487Ala) rs199740131 0.00005
NM_031844.3(HNRNPU):c.1996T>C (p.Leu666=) rs755861836 0.00002
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.453C>T (p.Gly151=) rs757950940 0.00001
NM_031844.3(HNRNPU):c.489T>G (p.Pro163=) rs760562563 0.00001
NM_031844.2(HNRNPU):c.2166_2167+1delAGG rs575582638
NM_031844.3(HNRNPU):c.1743+5del rs2102985849
NM_031844.3(HNRNPU):c.418G>A (p.Glu140Lys) rs1680927279
NM_031844.3(HNRNPU):c.645G>A (p.Lys215=)
NM_031844.3(HNRNPU):c.918C>T (p.Leu306=) rs1326720206

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