ClinVar Miner

List of variants reported as pathogenic for Beckwith-Wiedemann syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.546del (p.Pro183fs) rs1848940003 0.00001
NC_000005.10:g.(?_177135084)_(177295479_?)del
NC_000005.10:g.(?_177135094)_(177295469_?)del
NC_000005.10:g.(?_177235801)_(177239885_?)del
NC_000005.10:g.(?_177280545)_(177283948_?)del
NC_000005.10:g.(?_177288799)_(177288945_?)del
NC_000011.10:g.(?_2883979)_(2885755_?)del
NC_000011.9:g.(?_2905228)_(2906725_?)del
NM_001122630.2(CDKN1C):c.100G>T (p.Glu34Ter)
NM_001122630.2(CDKN1C):c.132del (p.Glu45fs) rs2133786067
NM_001122630.2(CDKN1C):c.133G>T (p.Glu45Ter) rs1848974871
NM_001122630.2(CDKN1C):c.156_157insTTCCAGCTGG (p.Asp53fs) rs1554938197
NM_001122630.2(CDKN1C):c.161_164del (p.Phe54fs)
NM_001122630.2(CDKN1C):c.163C>T (p.Gln55Ter)
NM_001122630.2(CDKN1C):c.163del (p.Gln55fs) rs1554938194
NM_001122630.2(CDKN1C):c.174dup (p.Pro59fs) rs2133785873
NM_001122630.2(CDKN1C):c.176C>T (p.Pro59Leu) rs483352970
NM_001122630.2(CDKN1C):c.185dup (p.Gly64fs)
NM_001122630.2(CDKN1C):c.193_200dup (p.Gln67fs) rs2133785723
NM_001122630.2(CDKN1C):c.199C>T (p.Gln67Ter) rs2133785734
NM_001122630.2(CDKN1C):c.203G>A (p.Trp68Ter) rs1379762772
NM_001122630.2(CDKN1C):c.204G>A (p.Trp68Ter) rs2133785693
NM_001122630.2(CDKN1C):c.205del (p.Thr69fs) rs2133785682
NM_001122630.2(CDKN1C):c.224C>A (p.Ser75Ter)
NM_001122630.2(CDKN1C):c.244G>T (p.Glu82Ter) rs2133785530
NM_001122630.2(CDKN1C):c.261dup (p.Arg88fs)
NM_001122630.2(CDKN1C):c.278_279insAGCA (p.Pro95fs) rs1848966851
NM_001122630.2(CDKN1C):c.283_300delinsG (p.Pro95fs) rs1848965153
NM_001122630.2(CDKN1C):c.296del (p.Ala99fs)
NM_001122630.2(CDKN1C):c.325G>T (p.Glu109Ter) rs1220263188
NM_001122630.2(CDKN1C):c.347del (p.Asp116fs)
NM_001122630.2(CDKN1C):c.351_358del (p.Leu118fs) rs1554938087
NM_001122630.2(CDKN1C):c.354del (p.Glu119fs) rs1590150660
NM_001122630.2(CDKN1C):c.355G>T (p.Glu119Ter) rs1564930265
NM_001122630.2(CDKN1C):c.35_50del (p.Val12fs)
NM_001122630.2(CDKN1C):c.388del (p.Val130fs)
NM_001122630.2(CDKN1C):c.399_415del (p.Ala134fs) rs2133784715
NM_001122630.2(CDKN1C):c.410del (p.Pro137fs) rs2133784748
NM_001122630.2(CDKN1C):c.416dup (p.Val140fs)
NM_001122630.2(CDKN1C):c.417_420del (p.Val140fs) rs1848953740
NM_001122630.2(CDKN1C):c.41_44del (p.Val14fs)
NM_001122630.2(CDKN1C):c.421_422insA (p.Pro141fs) rs2133784672
NM_001122630.2(CDKN1C):c.512del (p.Pro171fs)
NM_001122630.2(CDKN1C):c.542del (p.Pro181fs)
NM_001122630.2(CDKN1C):c.55dup (p.Cys19fs)
NM_001122630.2(CDKN1C):c.572dup (p.Ala192fs)
NM_001122630.2(CDKN1C):c.574_598dup (p.Ala200fs) rs1848931980
NM_001122630.2(CDKN1C):c.578_602dup (p.Ala202fs) rs1554937847
NM_001122630.2(CDKN1C):c.578del (p.Pro193fs) rs2133783249
NM_001122630.2(CDKN1C):c.57C>A (p.Cys19Ter) rs759365577
NM_001122630.2(CDKN1C):c.599_609del (p.Ala200fs) rs1848930692
NM_001122630.2(CDKN1C):c.604del (p.Ala202fs)
NM_001122630.2(CDKN1C):c.60_61del (p.Ser21fs) rs2133786397
NM_001122630.2(CDKN1C):c.614del (p.Pro205fs) rs1564929584
NM_001122630.2(CDKN1C):c.630del (p.Glu211fs)
NM_001122630.2(CDKN1C):c.640G>T (p.Glu214Ter) rs1564929520
NM_001122630.2(CDKN1C):c.655C>T (p.Gln219Ter) rs483352988
NM_001122630.2(CDKN1C):c.661del (p.Gln221fs)
NM_001122630.2(CDKN1C):c.662del (p.Gln221fs)
NM_001122630.2(CDKN1C):c.673G>T (p.Glu225Ter) rs1564929426
NM_001122630.2(CDKN1C):c.67_68insGAG (p.Phe23Ter) rs1848979151
NM_001122630.2(CDKN1C):c.688C>T (p.Gln230Ter) rs483352991
NM_001122630.2(CDKN1C):c.698C>A (p.Ser233Ter) rs483352993
NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter) rs104894200
NM_001122630.2(CDKN1C):c.719_730delinsGTGC (p.Ala240fs) rs1554937726
NM_001122630.2(CDKN1C):c.724_727dup (p.Thr243fs)
NM_001122630.2(CDKN1C):c.730del (p.Ala244fs)
NM_001122630.2(CDKN1C):c.745_757del (p.Asn249fs) rs2133782023
NM_001122630.2(CDKN1C):c.748_749del (p.Gly250fs) rs2133782104
NM_001122630.2(CDKN1C):c.74_75del (p.Pro25fs) rs1848978708
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn) rs387907225
NM_001122630.2(CDKN1C):c.790_791insC (p.Phe264fs)
NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu) rs318240750
NM_001122630.2(CDKN1C):c.809_810del (p.Arg270fs) rs2133780268
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter) rs267606716
NM_001122630.2(CDKN1C):c.812del (p.Arg270_Ser271insTer)
NM_001122630.2(CDKN1C):c.820G>T (p.Glu274Ter)
NM_001122630.2(CDKN1C):c.837del (p.Asp279fs)
NM_001122630.2(CDKN1C):c.85G>T (p.Glu29Ter) rs1564930723
NM_001122630.2(CDKN1C):c.92T>C (p.Leu31Pro) rs1848977725
NM_001122630.2(CDKN1C):c.95_96insA (p.Ser32fs) rs2133786225
NM_022455.5(NSD1):c.1046_1048delinsT (p.Thr349fs) rs1581254366
NM_022455.5(NSD1):c.1509delinsGA (p.Asp504fs) rs1562205351
NM_022455.5(NSD1):c.1609_1610delinsC (p.Phe537fs) rs1763204241
NM_022455.5(NSD1):c.1654del (p.Ser552fs) rs1060501497
NM_022455.5(NSD1):c.1816A>T (p.Lys606Ter) rs1554189131
NM_022455.5(NSD1):c.207C>A (p.Tyr69Ter) rs1562097849
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs) rs1581319715
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs) rs1554189490
NM_022455.5(NSD1):c.2334dup (p.His779fs) rs1554189512
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs) rs1060501490
NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs) rs1064794051
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer) rs1554190214
NM_022455.5(NSD1):c.3422del (p.Met1141fs) rs1554190247
NM_022455.5(NSD1):c.3548_3549insGA (p.Glu1184fs) rs878855075
NM_022455.5(NSD1):c.3570dup (p.Leu1191fs) rs1562213553
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs) rs587784104
NM_022455.5(NSD1):c.3968_3969dup (p.Ser1324fs) rs1554195840
NM_022455.5(NSD1):c.4213C>T (p.Gln1405Ter) rs1581411478
NM_022455.5(NSD1):c.4226_4229del (p.Thr1409fs) rs1765713589
NM_022455.5(NSD1):c.5437_5440del (p.Phe1813fs) rs1554202205
NM_022455.5(NSD1):c.5994del (p.Met1998fs) rs878855077
NM_022455.5(NSD1):c.6020_6021dup (p.Asp2008fs) rs1554204923
NM_022455.5(NSD1):c.880_881del (p.Glu294fs) rs1060501492

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