List of variants in gene HNRNPU reported by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 84

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_031844.3(HNRNPU):c.261G>A (p.Glu87=)	rs6675421	0.28876
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=)	rs11537737	0.00657
NM_031844.3(HNRNPU):c.141C>T (p.Ala47=)	rs111518952	0.00536
NM_031844.3(HNRNPU):c.1215G>A (p.Val405=)	rs147232928	0.00161
NM_031844.3(HNRNPU):c.507G>A (p.Gln169=)	rs139561508	0.00049
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.1654C>T (p.Leu552=)	rs115612462	0.00009
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala)	rs199596170	0.00007
NM_031844.3(HNRNPU):c.531C>A (p.Arg177=)	rs376987913	0.00007
NM_031844.3(HNRNPU):c.1268A>G (p.Lys423Arg)	rs760669739	0.00006
NM_031844.3(HNRNPU):c.1319C>A (p.Ala440Asp)	rs373039242	0.00006
NM_031844.3(HNRNPU):c.1460G>C (p.Gly487Ala)	rs199740131	0.00005
NM_031844.3(HNRNPU):c.1794C>T (p.Gly598=)	rs369567187	0.00005
NM_031844.3(HNRNPU):c.458G>A (p.Gly153Asp)	rs369208639	0.00005
NM_031844.3(HNRNPU):c.1081A>G (p.Ile361Val)	rs200962317	0.00004
NM_031844.3(HNRNPU):c.1952A>C (p.Glu651Ala)	rs202115297	0.00004
NM_031844.3(HNRNPU):c.374A>C (p.Glu125Ala)	rs199765762	0.00004
NM_031844.3(HNRNPU):c.157A>G (p.Met53Val)	rs770396451	0.00003
NM_031844.3(HNRNPU):c.1893T>C (p.His631=)	rs146426697	0.00003
NM_031844.3(HNRNPU):c.680C>T (p.Ala227Val)	rs755670533	0.00003
NM_031844.3(HNRNPU):c.222C>G (p.Leu74=)	rs201337749	0.00002
NM_031844.3(HNRNPU):c.1086C>T (p.Gly362=)	rs556474465	0.00001
NM_031844.3(HNRNPU):c.1183G>C (p.Asp395His)	rs777962801	0.00001
NM_031844.3(HNRNPU):c.1189G>A (p.Gly397Arg)	rs1680748404	0.00001
NM_031844.3(HNRNPU):c.1287C>T (p.Gly429=)	rs754530060	0.00001
NM_031844.3(HNRNPU):c.1288G>A (p.Val430Ile)	rs772732188	0.00001
NM_031844.3(HNRNPU):c.1826A>G (p.Lys609Arg)	rs761602649	0.00001
NM_031844.3(HNRNPU):c.2009A>G (p.Lys670Arg)	rs937095421	0.00001
NM_031844.3(HNRNPU):c.206G>C (p.Arg69Pro)	rs754427497	0.00001
NM_031844.3(HNRNPU):c.2193T>C (p.Asn731=)	rs372228779	0.00001
NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser)	rs1360721056	0.00001
NM_031844.3(HNRNPU):c.2313C>T (p.Tyr771=)	rs201310004	0.00001
NM_031844.3(HNRNPU):c.336C>T (p.Ala112=)	rs753169165	0.00001
NM_031844.3(HNRNPU):c.446A>G (p.Glu149Gly)	rs375569535	0.00001
NM_031844.2(HNRNPU):c.2166_2167+1delAGG	rs575582638
NM_031844.3(HNRNPU):c.1085del (p.Gly362fs)	rs1680764227
NM_031844.3(HNRNPU):c.1086del (p.Trp363fs)	rs1680764134
NM_031844.3(HNRNPU):c.1089G>C (p.Trp363Cys)	rs1135401732
NM_031844.3(HNRNPU):c.1137T>C (p.Tyr379=)
NM_031844.3(HNRNPU):c.1170C>A (p.Asn390Lys)
NM_031844.3(HNRNPU):c.1298A>G (p.Lys433Arg)
NM_031844.3(HNRNPU):c.129C>T (p.Asp43=)	rs2102990998
NM_031844.3(HNRNPU):c.1321G>A (p.Gly441Arg)
NM_031844.3(HNRNPU):c.1421C>T (p.Thr474Ile)
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.1629G>A (p.Lys543=)	rs1558186769
NM_031844.3(HNRNPU):c.1810G>A (p.Val604Ile)
NM_031844.3(HNRNPU):c.2072A>G (p.Asn691Ser)
NM_031844.3(HNRNPU):c.2085dup (p.Gly696fs)	rs1553282235
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.2217_2218del (p.Gly740fs)
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.2373C>T (p.Asn791=)
NM_031844.3(HNRNPU):c.270A>G (p.Glu90=)
NM_031844.3(HNRNPU):c.310dup (p.Met104fs)
NM_031844.3(HNRNPU):c.315G>C (p.Glu105Asp)
NM_031844.3(HNRNPU):c.336C>G (p.Ala112=)	rs753169165
NM_031844.3(HNRNPU):c.355G>A (p.Gly119Ser)
NM_031844.3(HNRNPU):c.374_375delinsCC (p.Glu125Ala)	rs1680928684
NM_031844.3(HNRNPU):c.375G>C (p.Glu125Asp)	rs752671029
NM_031844.3(HNRNPU):c.384G>A (p.Ser128=)	rs2102990726
NM_031844.3(HNRNPU):c.408G>A (p.Gln136=)
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.542A>G (p.Lys181Arg)	rs747403316
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.789G>A (p.Glu263=)
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
NM_031844.3(HNRNPU):c.970A>G (p.Arg324Gly)	rs1553283037

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.