ClinVar Miner

List of variants in gene HNRNPU reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_031844.3(HNRNPU):c.1189G>A (p.Gly397Arg) rs1680748404 0.00001
NM_031844.3(HNRNPU):c.2009A>G (p.Lys670Arg) rs937095421 0.00001
NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser) rs1360721056 0.00001
NM_031844.3(HNRNPU):c.446A>G (p.Glu149Gly) rs375569535 0.00001
NM_031844.3(HNRNPU):c.1089G>C (p.Trp363Cys) rs1135401732
NM_031844.3(HNRNPU):c.1170C>A (p.Asn390Lys)
NM_031844.3(HNRNPU):c.1298A>G (p.Lys433Arg)
NM_031844.3(HNRNPU):c.1321G>A (p.Gly441Arg)
NM_031844.3(HNRNPU):c.1502T>G (p.Met501Arg) rs1680716669
NM_031844.3(HNRNPU):c.1516C>T (p.Pro506Ser) rs1553282570
NM_031844.3(HNRNPU):c.1568G>A (p.Gly523Glu)
NM_031844.3(HNRNPU):c.1597A>G (p.Ile533Val)
NM_031844.3(HNRNPU):c.2072A>G (p.Asn691Ser)
NM_031844.3(HNRNPU):c.2177A>G (p.Asn726Ser)
NM_031844.3(HNRNPU):c.2199G>T (p.Arg733Ser) rs764205447
NM_031844.3(HNRNPU):c.220C>G (p.Leu74Val)
NM_031844.3(HNRNPU):c.2299_2302del (p.Asn767fs) rs878855133
NM_031844.3(HNRNPU):c.2341A>G (p.Asn781Asp) rs377250459
NM_031844.3(HNRNPU):c.315G>C (p.Glu105Asp)
NM_031844.3(HNRNPU):c.420A>C (p.Glu140Asp) rs1325726632
NM_031844.3(HNRNPU):c.439G>T (p.Asp147Tyr) rs781659437
NM_031844.3(HNRNPU):c.494C>T (p.Pro165Leu)
NM_031844.3(HNRNPU):c.503C>T (p.Thr168Met)
NM_031844.3(HNRNPU):c.535G>A (p.Ala179Thr)
NM_031844.3(HNRNPU):c.568C>G (p.Pro190Ala) rs1680921689
NM_031844.3(HNRNPU):c.584C>T (p.Ala195Val)
NM_031844.3(HNRNPU):c.592G>T (p.Val198Leu)
NM_031844.3(HNRNPU):c.7T>A (p.Ser3Thr)
NM_031844.3(HNRNPU):c.848T>A (p.Phe283Tyr)
NM_031844.3(HNRNPU):c.916C>T (p.Leu306Phe) rs1447036653

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