ClinVar Miner

List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 54 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NC_000001.10:g.(?_243668551)_(245027609_?)del
NC_000001.10:g.(?_244999017)_(245020178_?)dup
NC_000001.10:g.(?_245018389)_(245019742_?)del
NC_000001.11:g.(?_244860315)_(244862750_?)del
NM_031844.3(HNRNPU):c.1085G>T (p.Gly362Val) rs2527882185
NM_031844.3(HNRNPU):c.1118-1G>A rs2102987183
NM_031844.3(HNRNPU):c.1122del (p.Glu375fs) rs2527880675
NM_031844.3(HNRNPU):c.1137dup (p.Gly380fs) rs1553282754
NM_031844.3(HNRNPU):c.1157dup (p.Thr388fs) rs2102987155
NM_031844.3(HNRNPU):c.1429C>T (p.Gln477Ter) rs1680727391
NM_031844.3(HNRNPU):c.1491_1492dup (p.Glu498fs) rs1680725785
NM_031844.3(HNRNPU):c.1539G>A (p.Trp513Ter) rs2527508309
NM_031844.3(HNRNPU):c.1639del (p.Ala547fs) rs2527506327
NM_031844.3(HNRNPU):c.1681dup (p.Gln561fs) rs1573330458
NM_031844.3(HNRNPU):c.1749del (p.Asn583fs) rs2527505764
NM_031844.3(HNRNPU):c.1807G>A (p.Ala603Thr) rs2527505668
NM_031844.3(HNRNPU):c.191_206del (p.Gly64fs) rs1553284007
NM_031844.3(HNRNPU):c.1A>C (p.Met1Leu) rs546427799
NM_031844.3(HNRNPU):c.2006dup (p.Tyr669Ter) rs2102985419
NM_031844.3(HNRNPU):c.2210dup (p.Gln738fs) rs2102985060
NM_031844.3(HNRNPU):c.2256_2260del (p.Tyr753fs) rs2102985018
NM_031844.3(HNRNPU):c.226C>T (p.Gln76Ter) rs1221183673
NM_031844.3(HNRNPU):c.2277dup (p.Pro760fs)
NM_031844.3(HNRNPU):c.2291_2294dup (p.Tyr765Ter) rs2102984978
NM_031844.3(HNRNPU):c.2299_2302del (p.Asn767fs) rs878855133
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) rs2527895328
NM_031844.3(HNRNPU):c.481C>T (p.Gln161Ter) rs1553283899
NM_031844.3(HNRNPU):c.621dup (p.Gln208fs) rs2527894182
NM_031844.3(HNRNPU):c.622C>T (p.Gln208Ter) rs1573337552
NM_031844.3(HNRNPU):c.650_656del (p.Glu217fs) rs981309385
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) 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) rs770849021
NM_031844.3(HNRNPU):c.730_731del (p.Arg244fs) rs2102989487
NM_031844.3(HNRNPU):c.734_738dup (p.Lys247fs) rs2527890422
NM_031844.3(HNRNPU):c.794dup (p.Tyr266fs) rs2527890315
NM_031844.3(HNRNPU):c.79del (p.Asp27fs) rs2527896284
NM_031844.3(HNRNPU):c.804-9_804-6del rs2102989400
NM_031844.3(HNRNPU):c.89_179del (p.Leu30fs) rs2527895995
NM_031844.3(HNRNPU):c.943_944dup (p.Ser315fs)
NM_031844.3(HNRNPU):c.998_999del (p.Lys333fs) rs2527885160

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