ClinVar Miner

List of variants in gene HNRNPU reported as pathogenic for developmental and epileptic encephalopathy

Included ClinVar conditions (222):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NC_000001.10:g.(?_245018389)_(245019742_?)del
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.1102dup (p.Ser368fs)
NM_031844.3(HNRNPU):c.1118-1G>A rs2102987183
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.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.1463del (p.Pro488fs)
NM_031844.3(HNRNPU):c.1466del (p.Lys489fs)
NM_031844.3(HNRNPU):c.1491_1492dup (p.Glu498fs) rs1680725785
NM_031844.3(HNRNPU):c.1539G>A (p.Trp513Ter)
NM_031844.3(HNRNPU):c.1639del (p.Ala547fs)
NM_031844.3(HNRNPU):c.1664del (p.Leu555fs) rs1680691597
NM_031844.3(HNRNPU):c.1665_1666del (p.Leu556fs) rs2102985889
NM_031844.3(HNRNPU):c.1681dup (p.Gln561fs) rs1573330458
NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs) rs1135401794
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.1905_1906del (p.Lys635fs) rs2102985675
NM_031844.3(HNRNPU):c.191_206del (p.Gly64fs) rs1553284007
NM_031844.3(HNRNPU):c.1A>C (p.Met1Leu)
NM_031844.3(HNRNPU):c.2006dup (p.Tyr669Ter) rs2102985419
NM_031844.3(HNRNPU):c.2210dup (p.Gln738fs) rs2102985060
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.2277dup (p.Pro760fs)
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.307C>T (p.Gln103Ter) rs1553283951
NM_031844.3(HNRNPU):c.325G>T (p.Glu109Ter) rs1680930166
NM_031844.3(HNRNPU):c.336_351del (p.Ala113fs)
NM_031844.3(HNRNPU):c.481C>T (p.Gln161Ter) rs1553283899
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.575C>A (p.Ser192Ter) rs1333692140
NM_031844.3(HNRNPU):c.584del (p.Ala195fs)
NM_031844.3(HNRNPU):c.621dup (p.Gln208fs)
NM_031844.3(HNRNPU):c.622C>T (p.Gln208Ter) rs1573337552
NM_031844.3(HNRNPU):c.632dup (p.Gly212fs)
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.730_731del (p.Arg244fs) rs2102989487
NM_031844.3(HNRNPU):c.734_738dup (p.Lys247fs)
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.89_179del (p.Leu30fs)
NM_031844.3(HNRNPU):c.943_944dup (p.Ser315fs)
NM_031844.3(HNRNPU):c.998_999del (p.Lys333fs)

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