ClinVar Miner

List of variants in gene HNRNPU reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000001.11:g.(?_244860315)_(244862750_?)del
NM_031844.3(HNRNPU):c.1060_1061del (p.Asp353_Ile354insTer) rs2102987471
NM_031844.3(HNRNPU):c.1085G>T (p.Gly362Val)
NM_031844.3(HNRNPU):c.1085del (p.Gly362fs) rs1680764227
NM_031844.3(HNRNPU):c.1086del (p.Trp363fs) rs1680764134
NM_031844.3(HNRNPU):c.1089G>A (p.Trp363Ter) rs1135401732
NM_031844.3(HNRNPU):c.1118-1G>A rs2102987183
NM_031844.3(HNRNPU):c.1118-7_1118-3del rs1064796710
NM_031844.3(HNRNPU):c.1122del (p.Glu375fs)
NM_031844.3(HNRNPU):c.112C>A (p.Leu38Ile) rs2102991012
NM_031844.3(HNRNPU):c.1137dup (p.Gly380fs) rs1553282754
NM_031844.3(HNRNPU):c.1157dup (p.Thr388fs) rs2102987155
NM_031844.3(HNRNPU):c.1173_1174del (p.Cys391_Glu392delinsTer)
NM_031844.3(HNRNPU):c.1230+1G>C rs2102987091
NM_031844.3(HNRNPU):c.1230+5G>A rs1553282723
NM_031844.3(HNRNPU):c.1282del (p.Gly429fs) rs2102986749
NM_031844.3(HNRNPU):c.1320_1321del (p.Gly441fs) rs2102986721
NM_031844.3(HNRNPU):c.1429C>T (p.Gln477Ter) rs1680727391
NM_031844.3(HNRNPU):c.143_149del (p.Gly48fs) rs2102990974
NM_031844.3(HNRNPU):c.1450C>T (p.Arg484Ter) rs1553282635
NM_031844.3(HNRNPU):c.1491_1492dup (p.Glu498fs) rs1680725785
NM_031844.3(HNRNPU):c.1518del (p.Gly507fs) rs1064797011
NM_031844.3(HNRNPU):c.1539G>A (p.Trp513Ter)
NM_031844.3(HNRNPU):c.1639del (p.Ala547fs)
NM_031844.3(HNRNPU):c.165del (p.Asn57fs) rs1680936726
NM_031844.3(HNRNPU):c.1664del (p.Leu555fs) rs1680691597
NM_031844.3(HNRNPU):c.1665_1666del (p.Leu556fs) rs2102985889
NM_031844.3(HNRNPU):c.1669C>T (p.Gln557Ter) rs1553282390
NM_031844.3(HNRNPU):c.1674dup (p.Ala559fs) rs2102985883
NM_031844.3(HNRNPU):c.1681C>T (p.Gln561Ter) rs1553282385
NM_031844.3(HNRNPU):c.1681dup (p.Gln561fs) rs1573330458
NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs) rs1135401794
NM_031844.3(HNRNPU):c.1714C>T (p.Arg572Ter) rs1135401733
NM_031844.3(HNRNPU):c.1749del (p.Asn583fs)
NM_031844.3(HNRNPU):c.1765del (p.Gln589fs)
NM_031844.3(HNRNPU):c.1807G>A (p.Ala603Thr)
NM_031844.3(HNRNPU):c.1812dup (p.Val605fs) rs1057524916
NM_031844.3(HNRNPU):c.1852C>T (p.Gln618Ter) rs1680684866
NM_031844.3(HNRNPU):c.1905_1906del (p.Lys635fs) rs2102985675
NM_031844.3(HNRNPU):c.1913-1G>A rs1680675492
NM_031844.3(HNRNPU):c.191_206del (p.Gly64fs) rs1553284007
NM_031844.3(HNRNPU):c.2006dup (p.Tyr669Ter) rs2102985419
NM_031844.3(HNRNPU):c.2085dup (p.Gly696fs) rs1553282235
NM_031844.3(HNRNPU):c.2168-1G>T rs2102985114
NM_031844.3(HNRNPU):c.2210dup (p.Gln738fs) rs2102985060
NM_031844.3(HNRNPU):c.2217_2218del (p.Gly740fs)
NM_031844.3(HNRNPU):c.223G>T (p.Glu75Ter) rs773969888
NM_031844.3(HNRNPU):c.2256_2260del (p.Tyr753fs) rs2102985018
NM_031844.3(HNRNPU):c.226C>T (p.Gln76Ter)
NM_031844.3(HNRNPU):c.2270_2271del (p.Pro757fs) rs1135401734
NM_031844.3(HNRNPU):c.2288dup (p.Gly763_Ser764insTer) rs1680653195
NM_031844.3(HNRNPU):c.2291_2294dup (p.Tyr765Ter) rs2102984978
NM_031844.3(HNRNPU):c.2295_2298del (p.Ser764_Tyr765insTer)
NM_031844.3(HNRNPU):c.2299_2302del (p.Asn767fs) rs878855133
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs) rs794729648
NM_031844.3(HNRNPU):c.2425-2A>G rs1553281924
NM_031844.3(HNRNPU):c.245del (p.Gly82fs)
NM_031844.3(HNRNPU):c.2471_2472delinsGA (p.Tyr824Ter) rs1057524914
NM_031844.3(HNRNPU):c.253dup (p.Glu85fs) rs1553283982
NM_031844.3(HNRNPU):c.307C>T (p.Gln103Ter) rs1553283951
NM_031844.3(HNRNPU):c.310dup (p.Met104fs)
NM_031844.3(HNRNPU):c.316_322del (p.Leu106fs) rs1553283946
NM_031844.3(HNRNPU):c.325G>T (p.Glu109Ter) rs1680930166
NM_031844.3(HNRNPU):c.336_351del (p.Ala113fs)
NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter) rs1057524584
NM_031844.3(HNRNPU):c.481C>T (p.Gln161Ter) rs1553283899
NM_031844.3(HNRNPU):c.484del (p.Gln162fs) rs1553283895
NM_031844.3(HNRNPU):c.490C>T (p.Gln164Ter)
NM_031844.3(HNRNPU):c.511C>T (p.Gln171Ter) rs1057524915
NM_031844.3(HNRNPU):c.520C>T (p.Gln174Ter) rs886041983
NM_031844.3(HNRNPU):c.550_571dup (p.Thr191fs) rs1064794823
NM_031844.3(HNRNPU):c.551del (p.Ala184fs) rs2102990567
NM_031844.3(HNRNPU):c.562_577del (p.Ser188fs) rs2102990539
NM_031844.3(HNRNPU):c.575C>A (p.Ser192Ter) rs1333692140
NM_031844.3(HNRNPU):c.621dup (p.Gln208fs)
NM_031844.3(HNRNPU):c.622C>T (p.Gln208Ter) rs1573337552
NM_031844.3(HNRNPU):c.628dup (p.Ala210fs) rs1057520065
NM_031844.3(HNRNPU):c.650_656del (p.Glu217fs)
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) rs779453109
NM_031844.3(HNRNPU):c.651_660dup (p.Gly221fs) rs779453109
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs) rs754216321
NM_031844.3(HNRNPU):c.669_691dup (p.Gly231fs) rs754216321
NM_031844.3(HNRNPU):c.706_707del (p.Glu236fs)
NM_031844.3(HNRNPU):c.728del (p.Lys243fs)
NM_031844.3(HNRNPU):c.730_731del (p.Arg244fs) rs2102989487
NM_031844.3(HNRNPU):c.734_738dup (p.Lys247fs)
NM_031844.3(HNRNPU):c.743_749del (p.Arg248fs) rs1553283444
NM_031844.3(HNRNPU):c.794dup (p.Tyr266fs)
NM_031844.3(HNRNPU):c.79del (p.Asp27fs)
NM_031844.3(HNRNPU):c.804-9_804-6del rs2102989400
NM_031844.3(HNRNPU):c.817C>T (p.Gln273Ter)
NM_031844.3(HNRNPU):c.89_179del (p.Leu30fs)
NM_031844.3(HNRNPU):c.998_999del (p.Lys333fs)

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.