ClinVar Miner

List of variants reported as pathogenic for small intestine neoplasm by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 267
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter) rs74315370 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) rs74315369 0.00003
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295 0.00003
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.143A>T (p.Asp48Val) rs202101384 0.00001
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala) rs876658713 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser) rs587782243 0.00001
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp) rs778952116 0.00001
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) rs751000085 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys) rs397516836 0.00001
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys) rs200245469 0.00001
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys) rs138996609 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_003001.5(SDHC):c.1A>G (p.Met1Val) rs755235380 0.00001
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) rs756676111 0.00001
NM_003001.5(SDHC):c.374T>G (p.Met125Arg) rs1060501387 0.00001
NM_003001.5(SDHC):c.380A>G (p.His127Arg) rs786203457 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003001.5(SDHC):c.405+1G>T rs587776653 0.00001
NC_000001.10:g.(?_161284158)_(161284225_?)del
NC_000001.10:g.(?_161284196)_(161284215_?)del
NC_000001.10:g.(?_161293394)_(161293470_?)del
NC_000001.10:g.(?_161298176)_(161298297_?)del
NC_000001.10:g.(?_161310374)_(161310455_?)del
NC_000001.10:g.(?_161310374)_(161332308_?)del
NC_000001.10:g.(?_161326457)_(161332308_?)del
NC_000001.10:g.(?_161332109)_(161332308_?)del
NC_000001.10:g.(?_17345376)_(17345463_?)del
NC_000001.10:g.(?_17345376)_(17359650_?)del
NC_000001.10:g.(?_17345376)_(17371403_?)del
NC_000001.10:g.(?_17349093)_(17380514_?)del
NC_000001.10:g.(?_17359545)_(17380514_?)del
NC_000001.10:g.(?_17371246)_(17380514_?)del
NC_000001.10:g.(?_17380423)_(17380514_?)del
NC_000001.10:g.(?_17380437)_(17380520_?)del
NC_000001.11:g.(?_161314368)_(161362518_?)del
NC_000001.11:g.(?_161314400)_(161362439_?)del
NC_000001.11:g.(?_161323604)_(161328507_?)del
NC_000001.11:g.(?_161340584)_(161356850_?)del
NC_000001.11:g.(?_161356667)_(161356850_?)del
NC_000001.11:g.(?_161356667)_(161362443_?)del
NC_000001.11:g.(?_17018871)_(17018968_?)del
NC_000001.11:g.(?_17018871)_(17033155_?)del
NC_000001.11:g.(?_17018871)_(17044898_?)del
NC_000001.11:g.(?_17018871)_(17054029_?)del
NC_000001.11:g.(?_17018875)_(17033151_?)del
NC_000001.11:g.(?_17018881)_(17044898_?)del
NC_000001.11:g.(?_17018881)_(17054019_?)del
NC_000001.11:g.(?_17018881)_(17071491_?)del
NC_000001.11:g.(?_17033050)_(17033155_?)del
NC_000001.11:g.(?_17033054)_(17033151_?)del
NC_000001.11:g.(?_17044751)_(17044898_?)del
NC_000001.11:g.(?_17044761)_(17044888_?)del
NC_000001.11:g.(?_17053938)_(17054029_?)del
NC_000004.11:g.(?_55124936)_(57786056_?)del
NC_000004.11:g.(?_55522488)_(55524258_?)del
NC_000004.11:g.(?_55524176)_(55604729_?)del
NC_000004.11:g.(?_55569880)_(55570068_?)del
NC_000004.11:g.(?_55602654)_(55604723_?)del
NM_000222.3(KIT):c.1000_1003dup (p.Val335fs) rs2109705287
NM_000222.3(KIT):c.108_109insT (p.Pro37fs) rs1553887262
NM_000222.3(KIT):c.1126G>T (p.Glu376Ter) rs1720997965
NM_000222.3(KIT):c.1168dup (p.Tyr390fs) rs1721001014
NM_000222.3(KIT):c.120_123dup (p.Gly42fs) rs1161473997
NM_000222.3(KIT):c.1253_1254insAA (p.Tyr418Ter)
NM_000222.3(KIT):c.1482C>A (p.Tyr494Ter) rs771092774
NM_000222.3(KIT):c.1494del (p.Lys499fs)
NM_000222.3(KIT):c.1526A>T (p.Lys509Ile) rs1577992594
NM_000222.3(KIT):c.1666C>T (p.Gln556Ter) rs1722301014
NM_000222.3(KIT):c.1670G>A (p.Trp557Ter) rs1057520032
NM_000222.3(KIT):c.1735_1737del (p.Asp579del) rs1060502543
NM_000222.3(KIT):c.1861G>A (p.Ala621Thr) rs1560418178
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.3(KIT):c.1965T>A (p.Asn655Lys) rs1057519708
NM_000222.3(KIT):c.1990+1del rs2109782285
NM_000222.3(KIT):c.2080C>T (p.Gln694Ter) rs1722443590
NM_000222.3(KIT):c.2139del (p.Cys714fs)
NM_000222.3(KIT):c.2152_2153del (p.Ser717_Thr718insTer) rs1560420761
NM_000222.3(KIT):c.2446_2447del (p.Asp816fs)
NM_000222.3(KIT):c.2454del (p.Asn819fs) rs1060502521
NM_000222.3(KIT):c.2458G>T (p.Asp820Tyr) rs1057519710
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.32_33insG (p.Cys12fs)
NM_000222.3(KIT):c.364del (p.Arg122fs) rs2109671915
NM_000222.3(KIT):c.366_369del (p.Ser123fs) rs2109671956
NM_000222.3(KIT):c.389del (p.Asn130fs) rs1560395607
NM_000222.3(KIT):c.568C>T (p.Gln190Ter) rs1720236510
NM_000222.3(KIT):c.604del (p.Ile201_Leu202insTer)
NM_000222.3(KIT):c.673del (p.Glu225fs)
NM_000222.3(KIT):c.753_756del (p.Ser251fs) rs1553887960
NM_000222.3(KIT):c.756+1G>A rs1301704156
NM_000222.3(KIT):c.761_765del (p.Lys254fs)
NM_000222.3(KIT):c.828_832dup (p.Ser278fs)
NM_000222.3(KIT):c.86_87del (p.Val29fs)
NM_000222.3(KIT):c.959del (p.Asn320fs)
NM_003000.2(SDHB):c.-151_*159del
NM_003000.3(SDHB):c.111_112dup (p.Arg38fs) rs398123690
NM_003000.3(SDHB):c.112del (p.Arg38fs) rs398123690
NM_003000.3(SDHB):c.126del (p.Phe42fs) rs878854572
NM_003000.3(SDHB):c.134_138dup (p.Trp47fs)
NM_003000.3(SDHB):c.135T>G (p.Tyr45Ter) rs1351034939
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly) rs74315370
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu) rs772551056
NM_003000.3(SDHB):c.141G>A (p.Trp47Ter) rs1060503762
NM_003000.3(SDHB):c.143_144dup (p.Pro49fs) rs1570958038
NM_003000.3(SDHB):c.146del (p.Pro49fs)
NM_003000.3(SDHB):c.148_151dup (p.Lys51fs) rs1570958022
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.3(SDHB):c.17_18insACTCTCCTTGAGGCGCCGGTTGC (p.Ala15fs) rs2101551903
NM_003000.3(SDHB):c.183T>A (p.Tyr61Ter) rs760169139
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter) rs760169139
NM_003000.3(SDHB):c.190del (p.Asp64fs) rs1553178729
NM_003000.3(SDHB):c.194T>C (p.Leu65Pro) rs876659329
NM_003000.3(SDHB):c.19_41dup (p.Pro14_Ala15insSerProTer) rs1553179340
NM_003000.3(SDHB):c.1A>T (p.Met1Leu) rs1131691049
NM_003000.3(SDHB):c.200+1G>A rs2101541309
NM_003000.3(SDHB):c.200+1G>C rs2101541309
NM_003000.3(SDHB):c.200+5G>C rs1553178726
NM_003000.3(SDHB):c.201-1G>C
NM_003000.3(SDHB):c.201-2A>C rs878854574
NM_003000.3(SDHB):c.210dup (p.Met71fs) rs794728947
NM_003000.3(SDHB):c.22_23del (p.Ser8fs) rs1060503767
NM_003000.3(SDHB):c.22dup (p.Ser8fs) rs2101551846
NM_003000.3(SDHB):c.243_246dup (p.Val83Ter) rs2101528972
NM_003000.3(SDHB):c.249del (p.Asp84fs) rs2101528951
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.3(SDHB):c.26T>A (p.Leu9Ter) rs786203800
NM_003000.3(SDHB):c.271A>T (p.Arg91Ter) rs878854575
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.3(SDHB):c.286+1G>A rs786201063
NM_003000.3(SDHB):c.286+2T>A rs587781270
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.287-2A>G rs1064794270
NM_003000.3(SDHB):c.287-3C>G rs1553177772
NM_003000.3(SDHB):c.292T>C (p.Cys98Arg)
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs) rs786201316
NM_003000.3(SDHB):c.325_335del (p.Asn109fs) rs2101523248
NM_003000.3(SDHB):c.331_332del (p.Leu111fs) rs1060503751
NM_003000.3(SDHB):c.338G>A (p.Cys113Tyr) rs864321636
NM_003000.3(SDHB):c.338G>C (p.Cys113Ser) rs864321636
NM_003000.3(SDHB):c.374C>A (p.Ser125Ter) rs786203506
NM_003000.3(SDHB):c.374C>G (p.Ser125Ter) rs786203506
NM_003000.3(SDHB):c.392del (p.Pro131fs) rs1553177739
NM_003000.3(SDHB):c.395A>C (p.His132Pro) rs74315372
NM_003000.3(SDHB):c.399dup (p.Tyr134fs) rs1557741425
NM_003000.3(SDHB):c.3G>A (p.Met1Ile) rs1131691061
NM_003000.3(SDHB):c.412del (p.Asp138fs) rs2101522958
NM_003000.3(SDHB):c.413A>G (p.Asp138Gly) rs1570948527
NM_003000.3(SDHB):c.424-1G>A rs1131691060
NM_003000.3(SDHB):c.424-2A>G rs2101521922
NM_003000.3(SDHB):c.42_43insCACTCTCCTTGAGGCGCCGGTTGCCG (p.Ala15delinsHisSerProTer) rs2101551748
NM_003000.3(SDHB):c.441T>G (p.Tyr147Ter) rs1060503763
NM_003000.3(SDHB):c.445C>T (p.Gln149Ter) rs876658451
NM_003000.3(SDHB):c.445_446dup (p.Gln149fs) rs2101521836
NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs) rs1553177688
NM_003000.3(SDHB):c.450C>G (p.Tyr150Ter) rs2101521812
NM_003000.3(SDHB):c.466del (p.Tyr156fs) rs2101521760
NM_003000.3(SDHB):c.470del (p.Tyr156_Leu157insTer) rs2077999823
NM_003000.3(SDHB):c.473del (p.Lys158fs)
NM_003000.3(SDHB):c.481del (p.Asp161fs) rs794728949
NM_003000.3(SDHB):c.484G>T (p.Glu162Ter) rs2101521715
NM_003000.3(SDHB):c.491del (p.Gln164fs) rs1553177678
NM_003000.3(SDHB):c.499A>T (p.Lys167Ter) rs1060503753
NM_003000.3(SDHB):c.502C>T (p.Gln168Ter) rs1553177677
NM_003000.3(SDHB):c.505C>T (p.Gln169Ter) rs1553177676
NM_003000.3(SDHB):c.508dup (p.Tyr170fs)
NM_003000.3(SDHB):c.523dup (p.Glu175fs) rs2077999421
NM_003000.3(SDHB):c.537dup (p.Leu180fs) rs1553177669
NM_003000.3(SDHB):c.541-2A>G rs786201161
NM_003000.3(SDHB):c.553G>T (p.Glu185Ter) rs1045881797
NM_003000.3(SDHB):c.557G>A (p.Cys186Tyr) rs1553177440
NM_003000.3(SDHB):c.566G>T (p.Cys189Phe) rs876658540
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr) rs2077978456
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.3(SDHB):c.575G>A (p.Cys192Tyr) rs397516835
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr) rs876658367
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.3(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.3(SDHB):c.598del (p.Trp200fs) rs2101516424
NM_003000.3(SDHB):c.598dup (p.Trp200fs) rs2101516417
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003000.3(SDHB):c.602G>A (p.Trp201Ter) rs1060503759
NM_003000.3(SDHB):c.605_609dup (p.Asp204fs) rs1131691050
NM_003000.3(SDHB):c.605dup (p.Asn202fs) rs1131691053
NM_003000.3(SDHB):c.607G>T (p.Gly203Ter)
NM_003000.3(SDHB):c.607_616del (p.Gly203fs) rs587782617
NM_003000.3(SDHB):c.608del (p.Gly203fs) rs1553177436
NM_003000.3(SDHB):c.609_622dup (p.Gly208fs) rs1570945796
NM_003000.3(SDHB):c.620_621del (p.Leu207fs) rs1060503752
NM_003000.3(SDHB):c.623G>A (p.Gly208Glu)
NM_003000.3(SDHB):c.637dup (p.Met213fs)
NM_003000.3(SDHB):c.63dup (p.Cys22fs) rs1570963451
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.3(SDHB):c.642+1G>A rs1131691052
NM_003000.3(SDHB):c.642+2T>G rs1553177424
NM_003000.3(SDHB):c.649C>G (p.Arg217Gly) rs200245469
NM_003000.3(SDHB):c.653G>A (p.Trp218Ter) rs1553177290
NM_003000.3(SDHB):c.654G>A (p.Trp218Ter) rs916516745
NM_003000.3(SDHB):c.656_707dup (p.Asp236_Pro237insAspTer) rs1570944850
NM_003000.3(SDHB):c.666_667del (p.Arg223_Asp224insTer)
NM_003000.3(SDHB):c.677del (p.Phe226fs) rs2077968833
NM_003000.3(SDHB):c.680_681del (p.Thr227fs)
NM_003000.3(SDHB):c.683_684del (p.Glu228fs) rs762812025
NM_003000.3(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs) rs1209914140
NM_003000.3(SDHB):c.686_687dup (p.Arg230fs)
NM_003000.3(SDHB):c.689G>T (p.Arg230Leu) rs587782604
NM_003000.3(SDHB):c.697A>T (p.Lys233Ter) rs1553177285
NM_003000.3(SDHB):c.703C>T (p.Gln235Ter)
NM_003000.3(SDHB):c.70C>T (p.Gln24Ter) rs1570963430
NM_003000.3(SDHB):c.713del (p.Phe238fs) rs876660642
NM_003000.3(SDHB):c.716_719del (p.Ser239fs) rs587781266
NM_003000.3(SDHB):c.717dup (p.Leu240fs) rs1060503764
NM_003000.3(SDHB):c.718_721del (p.Leu240fs) rs794728950
NM_003000.3(SDHB):c.71dup (p.Ala25fs) rs1131691057
NM_003000.3(SDHB):c.72+1G>A rs587782703
NM_003000.3(SDHB):c.72+1G>T rs587782703
NM_003000.3(SDHB):c.724C>A (p.Arg242Ser) rs786203251
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys) rs786203251
NM_003000.3(SDHB):c.743_765+36del rs2101513438
NM_003000.3(SDHB):c.751_754del (p.Arg251fs)
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr) rs786201085
NM_003000.3(SDHB):c.75del (p.Ser26fs) rs2101541632
NM_003000.3(SDHB):c.761_765+33del rs2077967597
NM_003000.3(SDHB):c.765+1G>A rs2101513511
NM_003000.3(SDHB):c.784del (p.Ala262fs)
NM_003000.3(SDHB):c.84_141dup (p.Asp48fs)
NM_003000.3(SDHB):c.88del (p.Gln30fs) rs747198089
NM_003001.3(SDHC):c.406-?_*2318+?del
NM_003001.5(SDHC):c.124del (p.Trp42fs) rs2102307803
NM_003001.5(SDHC):c.143_144insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATATAGGTTC (p.Ser48_Asn49insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaXaaLysLysLysLysLysLysLysAsnIleGlySer)
NM_003001.5(SDHC):c.175del (p.Tyr59fs) rs1671157149
NM_003001.5(SDHC):c.177C>A (p.Tyr59Ter)
NM_003001.5(SDHC):c.17_18dup (p.Arg7Ter) rs1553260596
NM_003001.5(SDHC):c.183del (p.Trp61fs) rs1671684409
NM_003001.5(SDHC):c.1A>C (p.Met1Leu)
NM_003001.5(SDHC):c.1A>T (p.Met1Leu) rs755235380
NM_003001.5(SDHC):c.20+4066C>G
NM_003001.5(SDHC):c.21-1G>A
NM_003001.5(SDHC):c.21-2A>G rs1131691062
NM_003001.5(SDHC):c.21-3C>G rs1670921815
NM_003001.5(SDHC):c.214del (p.Arg72fs) rs2102336244
NM_003001.5(SDHC):c.215del (p.Arg72fs) rs1553264218
NM_003001.5(SDHC):c.220dup (p.Thr74fs)
NM_003001.5(SDHC):c.233dup (p.Leu78fs) rs1571869304
NM_003001.5(SDHC):c.247dup (p.Ser83fs) rs1672284298
NM_003001.5(SDHC):c.250_251del (p.Leu84fs) rs2102370242
NM_003001.5(SDHC):c.278dup (p.Gly94fs) rs1483039185
NM_003001.5(SDHC):c.288dup (p.Glu97Ter)
NM_003001.5(SDHC):c.2T>C (p.Met1Thr)
NM_003001.5(SDHC):c.349_350del (p.Lys117fs) rs1672291512
NM_003001.5(SDHC):c.376_391del (p.Tyr126fs) rs1553265817
NM_003001.5(SDHC):c.379C>T (p.His127Tyr) rs1485675090
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter) rs1672294906
NM_003001.5(SDHC):c.387G>A (p.Trp129Ter) rs981049067
NM_003001.5(SDHC):c.3G>A (p.Met1Ile) rs587776652
NM_003001.5(SDHC):c.405+1G>A rs587776653
NM_003001.5(SDHC):c.405+1G>C rs587776653
NM_003001.5(SDHC):c.61C>T (p.Gln21Ter)
NM_003001.5(SDHC):c.86del (p.Pro29fs) rs1671145065
Single allele

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