ClinVar Miner

List of variants reported as pathogenic for central nervous system neoplasm by Invitae

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 567
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_004168.4(SDHA):c.1663+3G>C rs751904543 0.00004
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) rs139881415 0.00004
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_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys) rs778737664 0.00003
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 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
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter) rs746165168 0.00001
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter) rs151170408 0.00001
NM_004168.4(SDHA):c.1338del (p.His447fs) rs1735791499 0.00001
NM_004168.4(SDHA):c.1340A>G (p.His447Arg) rs779151375 0.00001
NM_004168.4(SDHA):c.1352G>A (p.Arg451His) rs370690436 0.00001
NM_004168.4(SDHA):c.1432_1432+1del rs878854627 0.00001
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) rs778207102 0.00001
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter) rs747249998 0.00001
NM_004168.4(SDHA):c.1663+1G>T rs766667009 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln) rs752360961 0.00001
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter) rs775827529 0.00001
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter) rs771328239 0.00001
NM_016169.4(SUFU):c.436C>T (p.Arg146Ter) rs1060501109 0.00001
NC_000001.10:g.(?_161284158)_(161284225_?)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.(?_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.(?_161356677)_(161356840_?)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.(?_17018875)_(17044894_?)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_000010.10:g.(?_104262628)_(104595248_?)del
NC_000010.10:g.(?_104263900)_(104389922_?)del
NC_000010.10:g.(?_104352329)_(104352491_?)del
NC_000010.10:g.(?_104352329)_(104353832_?)del
NC_000010.10:g.(?_104386922)_(104392580_?)del
NC_000010.11:g.(?_102504143)_(102550116_?)del
NC_000010.11:g.(?_102549960)_(102550116_?)del
NC_000010.11:g.(?_102593630)_(102597299_?)del
NC_000011.10:g.(?_112086898)_(112094980_?)del
NC_000011.10:g.(?_112086902)_(112094975_?)del
NC_000011.10:g.(?_112088857)_(112094980_?)del
NC_000011.10:g.(?_112094795)_(112094970_?)del
NC_000011.10:g.(?_112094795)_(112094980_?)del
NC_000011.10:g.(?_112094799)_(112094976_?)del
NC_000011.9:g.(?_111171709)_(111965694_?)del
NC_000011.9:g.(?_111957547)_(111958707_?)del
NC_000017.10:g.(?_38785037)_(38804103_?)del
NC_000019.10:g.(?_10984121)_(11062282_?)del
NC_000019.10:g.(?_11018947)_(11030903_?)del
NC_000019.10:g.(?_11018951)_(11030899_?)del
NC_000019.9:g.(?_11094822)_(11172498_?)del
NC_000019.9:g.(?_11094828)_(11114083_?)del
NC_000019.9:g.(?_11094828)_(11129709_?)del
NC_000019.9:g.(?_11094828)_(11152246_?)del
NC_000019.9:g.(?_11094828)_(11172492_?)del
NC_000019.9:g.(?_11098332)_(11105687_?)del
NC_000019.9:g.(?_11099983)_(11102009_?)del
NC_000019.9:g.(?_11101816)_(11152246_?)del
NC_000019.9:g.(?_11118568)_(11118709_?)del
NC_000019.9:g.(?_11121047)_(11136194_?)del
NM_001128849.1(SMARCA4):c.3874delG
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
NM_003002.3(SDHD):c.-84_*831del
NM_003002.4(SDHD):c.10dup (p.Leu4fs) rs878854589
NM_003002.4(SDHD):c.173del (p.Gly58fs) rs878854590
NM_003002.4(SDHD):c.242del (p.Pro81fs) rs878854591
NM_003072.5(SMARCA4):c.1020_1053dup (p.Ile352fs)
NM_003072.5(SMARCA4):c.1066C>T (p.Gln356Ter)
NM_003072.5(SMARCA4):c.1123C>T (p.Gln375Ter)
NM_003072.5(SMARCA4):c.1141C>T (p.Arg381Ter) rs972341316
NM_003072.5(SMARCA4):c.1177del (p.Ala393fs) rs2145848353
NM_003072.5(SMARCA4):c.1189C>T (p.Arg397Ter) rs1295192121
NM_003072.5(SMARCA4):c.1243C>T (p.Gln415Ter) rs2086356894
NM_003072.5(SMARCA4):c.1378C>T (p.Gln460Ter) rs1490850743
NM_003072.5(SMARCA4):c.1408C>T (p.Gln470Ter) rs1555757738
NM_003072.5(SMARCA4):c.1472_1473insGCAAA (p.Ser492fs) rs2145938835
NM_003072.5(SMARCA4):c.1543C>T (p.Gln515Ter) rs2086887013
NM_003072.5(SMARCA4):c.1554_1555del (p.Asn519fs)
NM_003072.5(SMARCA4):c.1567G>T (p.Glu523Ter) rs2086888561
NM_003072.5(SMARCA4):c.1645C>T (p.Arg549Cys) rs2087030906
NM_003072.5(SMARCA4):c.1649del (p.Leu550fs)
NM_003072.5(SMARCA4):c.1680C>G (p.Tyr560Ter) rs375507937
NM_003072.5(SMARCA4):c.1681del (p.Val561fs) rs2087033635
NM_003072.5(SMARCA4):c.1754_1757del (p.Lys585fs) rs1555763780
NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs) rs1342399494
NM_003072.5(SMARCA4):c.1831C>T (p.Gln611Ter) rs1568455217
NM_003072.5(SMARCA4):c.1958del (p.Pro653fs)
NM_003072.5(SMARCA4):c.1996G>T (p.Glu666Ter)
NM_003072.5(SMARCA4):c.2032C>T (p.Gln678Ter) rs1555771571
NM_003072.5(SMARCA4):c.2111_2115del (p.Arg704fs) rs2146193795
NM_003072.5(SMARCA4):c.2149G>T (p.Glu717Ter) rs2146234214
NM_003072.5(SMARCA4):c.2164C>T (p.Gln722Ter) rs1555773269
NM_003072.5(SMARCA4):c.2266C>T (p.Gln756Ter)
NM_003072.5(SMARCA4):c.2291G>A (p.Trp764Ter)
NM_003072.5(SMARCA4):c.2292G>A (p.Trp764Ter) rs2088999811
NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter) rs1568419675
NM_003072.5(SMARCA4):c.2329del (p.Leu777fs) rs1555774702
NM_003072.5(SMARCA4):c.2527del (p.Ala843fs) rs2146373508
NM_003072.5(SMARCA4):c.2625del (p.Arg874_Trp875insTer)
NM_003072.5(SMARCA4):c.274del (p.Gln92fs)
NM_003072.5(SMARCA4):c.2766G>A (p.Trp922Ter)
NM_003072.5(SMARCA4):c.2780del (p.Phe927fs) rs2146421085
NM_003072.5(SMARCA4):c.2825G>A (p.Trp942Ter) rs2146422618
NM_003072.5(SMARCA4):c.2826G>A (p.Trp942Ter) rs2146422656
NM_003072.5(SMARCA4):c.2838del (p.Phe947fs) rs2146423140
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_003072.5(SMARCA4):c.2922del (p.Phe975fs) rs797045980
NM_003072.5(SMARCA4):c.2932C>T (p.Arg978Ter) rs1064796254
NM_003072.5(SMARCA4):c.2935C>T (p.Arg979Ter) rs769308802
NM_003072.5(SMARCA4):c.2959C>T (p.Gln987Ter)
NM_003072.5(SMARCA4):c.300_301del (p.Gly102fs) rs780424104
NM_003072.5(SMARCA4):c.3013C>T (p.Arg1005Ter) rs2146473376
NM_003072.5(SMARCA4):c.3033dup (p.Gln1012fs) rs2090100956
NM_003072.5(SMARCA4):c.3129del (p.Lys1044fs) rs2146497558
NM_003072.5(SMARCA4):c.3169G>T (p.Glu1057Ter) rs1555781050
NM_003072.5(SMARCA4):c.3211dup (p.Gln1071fs) rs2146516794
NM_003072.5(SMARCA4):c.3228C>G (p.Tyr1076Ter) rs2146541525
NM_003072.5(SMARCA4):c.3229C>T (p.Arg1077Ter) rs2146541571
NM_003072.5(SMARCA4):c.3267del (p.Lys1091fs)
NM_003072.5(SMARCA4):c.3277C>T (p.Arg1093Ter) rs1600335765
NM_003072.5(SMARCA4):c.336dup (p.Met113fs) rs2145752321
NM_003072.5(SMARCA4):c.33_51del (p.Pro12fs)
NM_003072.5(SMARCA4):c.343C>T (p.Gln115Ter) rs2145752709
NM_003072.5(SMARCA4):c.3512_3513del (p.Val1171fs)
NM_003072.5(SMARCA4):c.3547-1G>A rs2146647668
NM_003072.5(SMARCA4):c.3559C>T (p.Gln1187Ter) rs1600389034
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_003072.5(SMARCA4):c.3603dup (p.Leu1202fs)
NM_003072.5(SMARCA4):c.3607C>T (p.Arg1203Cys)
NM_003072.5(SMARCA4):c.365C>A (p.Ser122Ter) rs1555752859
NM_003072.5(SMARCA4):c.3725del (p.Glu1242fs)
NM_003072.5(SMARCA4):c.3809_3825dup (p.Pro1276fs) rs2075088671
NM_003072.5(SMARCA4):c.3827del (p.Pro1276fs) rs2146666663
NM_003072.5(SMARCA4):c.3910C>T (p.Gln1304Ter) rs2146678594
NM_003072.5(SMARCA4):c.3980_3981del (p.Glu1327fs)
NM_003072.5(SMARCA4):c.4077T>A (p.Cys1359Ter) rs2146700981
NM_003072.5(SMARCA4):c.4145C>A (p.Ser1382Ter)
NM_003072.5(SMARCA4):c.4243C>T (p.Arg1415Ter) rs878854224
NM_003072.5(SMARCA4):c.4345G>T (p.Glu1449Ter)
NM_003072.5(SMARCA4):c.4459C>T (p.Gln1487Ter)
NM_003072.5(SMARCA4):c.4465_4466insT (p.Pro1489fs)
NM_003072.5(SMARCA4):c.4600C>T (p.Gln1534Ter) rs2076695154
NM_003072.5(SMARCA4):c.4660C>T (p.Gln1554Ter) rs1555795884
NM_003072.5(SMARCA4):c.4684C>T (p.Gln1562Ter)
NM_003072.5(SMARCA4):c.4738G>T (p.Glu1580Ter) rs1600644640
NM_003072.5(SMARCA4):c.490C>T (p.Gln164Ter) rs2145775805
NM_003072.5(SMARCA4):c.493C>T (p.Gln165Ter) rs1568422286
NM_003072.5(SMARCA4):c.561C>G (p.Tyr187Ter) rs1305866080
NM_003072.5(SMARCA4):c.574del (p.Arg192fs) rs2145779070
NM_003072.5(SMARCA4):c.579del (p.Gln194fs)
NM_003072.5(SMARCA4):c.657_661del (p.Leu220fs)
NM_003072.5(SMARCA4):c.662del (p.Pro221fs) rs1060502085
NM_003072.5(SMARCA4):c.671_696del (p.Ser224fs)
NM_003072.5(SMARCA4):c.810del (p.Met272fs)
NM_003072.5(SMARCA4):c.810dup (p.Gly271fs)
NM_003072.5(SMARCA4):c.823C>T (p.Gln275Ter) rs1555754293
NM_003072.5(SMARCA4):c.868del (p.Ala290fs)
NM_003072.5(SMARCA4):c.870del (p.Asn291fs)
NM_003072.5(SMARCA4):c.916C>T (p.Gln306Ter) rs2086182638
NM_003072.5(SMARCA4):c.917_941del (p.Gln306fs) rs2145815261
NM_003072.5(SMARCA4):c.982_986del (p.Pro328fs) rs1555755067
NM_003079.5(SMARCE1):c.313C>T (p.Arg105Ter) rs1060501395
NM_003079.5(SMARCE1):c.328G>T (p.Glu110Ter) rs2143997316
NM_003079.5(SMARCE1):c.340G>T (p.Glu114Ter) rs2037146773
NM_003079.5(SMARCE1):c.376T>G (p.Tyr126Asp)
NM_003079.5(SMARCE1):c.454_455delinsT (p.Ala152fs) rs1555605750
NM_003079.5(SMARCE1):c.472C>T (p.Arg158Ter) rs1251821702
NM_003079.5(SMARCE1):c.493G>T (p.Glu165Ter) rs2143996133
NM_003079.5(SMARCE1):c.506del (p.Pro169fs)
NM_003079.5(SMARCE1):c.525del (p.Ala176fs) rs878854603
NM_003079.5(SMARCE1):c.554del (p.Gly185fs)
NM_003079.5(SMARCE1):c.624_627del (p.Ser208fs) rs797045990
NM_003079.5(SMARCE1):c.673C>T (p.Gln225Ter)
NM_003079.5(SMARCE1):c.688C>T (p.Gln230Ter) rs2143988272
NM_003079.5(SMARCE1):c.694C>T (p.Gln232Ter)
NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter) rs397509405
NM_003079.5(SMARCE1):c.751C>T (p.Arg251Ter) rs1057518166
NM_003079.5(SMARCE1):c.757C>T (p.Gln253Ter) rs1555605347
NM_003079.5(SMARCE1):c.808del (p.Arg272fs) rs2143986851
NM_003079.5(SMARCE1):c.814del (p.Arg272fs)
NM_003079.5(SMARCE1):c.871C>T (p.Gln291Ter) rs2037087179
NM_003079.5(SMARCE1):c.92del (p.Tyr31fs) rs2144009190
NM_004168.4(SDHA):c.1012del (p.Ala338fs) rs1295239305
NM_004168.4(SDHA):c.1032_1033del (p.Arg345fs) rs2126578081
NM_004168.4(SDHA):c.1035del (p.Ser346fs) rs2126578126
NM_004168.4(SDHA):c.1045_1046del (p.Leu349fs)
NM_004168.4(SDHA):c.1063A>T (p.Arg355Ter)
NM_004168.4(SDHA):c.1099C>T (p.Gln367Ter)
NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter) rs1735691933
NM_004168.4(SDHA):c.1133dup (p.Arg379fs)
NM_004168.4(SDHA):c.1138del (p.Leu380fs)
NM_004168.4(SDHA):c.1245dup (p.Asn416fs) rs2126585710
NM_004168.4(SDHA):c.124_125dup (p.Ala43fs) rs1385076821
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter) rs1579407009
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
NM_004168.4(SDHA):c.1354del (p.Leu452fs)
NM_004168.4(SDHA):c.1396del (p.Ala466fs)
NM_004168.4(SDHA):c.1397dup (p.Cys467fs) rs1735798915
NM_004168.4(SDHA):c.1414G>T (p.Glu472Ter)
NM_004168.4(SDHA):c.1437_1438insGT (p.Lys480fs)
NM_004168.4(SDHA):c.1438A>T (p.Lys480Ter)
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) rs1554000360
NM_004168.4(SDHA):c.1470_1473dup (p.Ser492fs) rs2126602655
NM_004168.4(SDHA):c.1477_1478del (p.Val493fs)
NM_004168.4(SDHA):c.1494_1516del (p.Lys498fs)
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter) rs1064793567
NM_004168.4(SDHA):c.1526del (p.Ser509fs)
NM_004168.4(SDHA):c.1547dup (p.Lys517fs) rs1554000378
NM_004168.4(SDHA):c.1552-2591A>G
NM_004168.4(SDHA):c.1558C>T (p.Gln520Ter) rs2126631964
NM_004168.4(SDHA):c.1579del (p.Arg527fs) rs1579437839
NM_004168.4(SDHA):c.1608T>A (p.Cys536Ter)
NM_004168.4(SDHA):c.160C>T (p.Gln54Ter) rs1560985916
NM_004168.4(SDHA):c.1615dup (p.Ile539fs) rs1554001843
NM_004168.4(SDHA):c.1656del (p.Phe552fs) rs1736795573
NM_004168.4(SDHA):c.1658_1661del (p.Asp553fs) rs2126632404
NM_004168.4(SDHA):c.1663+1G>C
NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu) rs137852768
NM_004168.4(SDHA):c.168del (p.Pro56_Val57insTer)
NM_004168.4(SDHA):c.1716dup (p.Leu573fs)
NM_004168.4(SDHA):c.171dup (p.Val58fs) rs1553997323
NM_004168.4(SDHA):c.1741G>T (p.Gly581Ter)
NM_004168.4(SDHA):c.1743_1744del (p.Ala582fs) rs2126633505
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)
NM_004168.4(SDHA):c.1755_1759del (p.Lys586fs) rs1561010916
NM_004168.4(SDHA):c.1764dup (p.Arg589fs) rs2126633648
NM_004168.4(SDHA):c.17_18insA (p.Leu7fs)
NM_004168.4(SDHA):c.181G>T (p.Glu61Ter) rs1734884330
NM_004168.4(SDHA):c.1846A>T (p.Lys616Ter)
NM_004168.4(SDHA):c.1A>C (p.Met1Leu) rs1061517
NM_004168.4(SDHA):c.1A>T (p.Met1Leu) rs1061517
NM_004168.4(SDHA):c.1del (p.Met1fs) rs1085307796
NM_004168.4(SDHA):c.214dup (p.Ala72fs) rs1734887425
NM_004168.4(SDHA):c.23C>A (p.Ser8Ter) rs878854631
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer) rs2126542910
NM_004168.4(SDHA):c.245_252del (p.Glu82fs) rs1734890180
NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer) rs1560986132
NM_004168.4(SDHA):c.267T>A (p.Cys89Ter) rs1579381753
NM_004168.4(SDHA):c.28del (p.Leu10fs) rs1579369841
NM_004168.4(SDHA):c.298_299del (p.Thr100fs) rs2126543272
NM_004168.4(SDHA):c.2T>A (p.Met1Lys) rs750380279
NM_004168.4(SDHA):c.2T>C (p.Met1Thr) rs750380279
NM_004168.4(SDHA):c.2T>G (p.Met1Arg) rs750380279
NM_004168.4(SDHA):c.304dup (p.Ala102fs)
NM_004168.4(SDHA):c.310C>T (p.Gln104Ter) rs1423978863
NM_004168.4(SDHA):c.310_311dup (p.Gln104fs) rs876658637
NM_004168.4(SDHA):c.322_323del (p.Asn108fs) rs2126546657
NM_004168.4(SDHA):c.336del (p.Asn113fs)
NM_004168.4(SDHA):c.351del (p.Asp117fs)
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter) rs1734957331
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer) rs1553997617
NM_004168.4(SDHA):c.392_396dup (p.Leu133fs) rs2126547233
NM_004168.4(SDHA):c.3G>A (p.Met1Ile)
NM_004168.4(SDHA):c.3G>C (p.Met1Ile) rs2126522051
NM_004168.4(SDHA):c.3G>T (p.Met1Ile) rs2126522051
NM_004168.4(SDHA):c.403del (p.Asp135fs)
NM_004168.4(SDHA):c.447del (p.Val150fs) rs2126547751
NM_004168.4(SDHA):c.454G>T (p.Glu152Ter) rs778737664
NM_004168.4(SDHA):c.457-1G>A
NM_004168.4(SDHA):c.457-2A>G rs2126549179
NM_004168.4(SDHA):c.457-2_457del rs878854632
NM_004168.4(SDHA):c.464del (p.Asn155fs)
NM_004168.4(SDHA):c.466del (p.Tyr156fs)
NM_004168.4(SDHA):c.467dup (p.Tyr156Ter) rs2126549281
NM_004168.4(SDHA):c.468T>G (p.Tyr156Ter) rs989318548
NM_004168.4(SDHA):c.46_52dup (p.Leu18fs) rs1560980939
NM_004168.4(SDHA):c.484del (p.Arg162fs) rs1734988578
NM_004168.4(SDHA):c.508C>T (p.Gln170Ter) rs1579385645
NM_004168.4(SDHA):c.514_517dup (p.Phe173fs)
NM_004168.4(SDHA):c.554dup (p.Ala186fs) rs1173940446
NM_004168.4(SDHA):c.5C>A (p.Ser2Ter) rs780064103
NM_004168.4(SDHA):c.5dup (p.Val4fs)
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter) rs876658486
NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs) rs1579386206
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter) rs775143272
NM_004168.4(SDHA):c.633T>G (p.Tyr211Ter) rs1307665893
NM_004168.4(SDHA):c.64-2A>G rs762456298
NM_004168.4(SDHA):c.644_645del (p.Tyr215fs) rs1560989804
NM_004168.4(SDHA):c.65G>A (p.Trp22Ter) rs2126539382
NM_004168.4(SDHA):c.667del (p.Asp223fs) rs587782077
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004168.4(SDHA):c.699del (p.Val234fs) rs1175771583
NM_004168.4(SDHA):c.722_726del (p.Asp241fs) rs1553998229
NM_004168.4(SDHA):c.757_758del (p.Val253fs) rs1553998254
NM_004168.4(SDHA):c.762_770+17del rs1041809852
NM_004168.4(SDHA):c.775del (p.Tyr259fs) rs1553998606
NM_004168.4(SDHA):c.786del (p.Tyr263fs) rs1553998613
NM_004168.4(SDHA):c.79C>T (p.Gln27Ter) rs1734829878
NM_004168.4(SDHA):c.83dup (p.Gly29fs) rs1734830402
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter) rs1560992565
NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs) rs1579402188
NM_004168.4(SDHA):c.943G>T (p.Gly315Ter)
NM_004168.4(SDHA):c.954del (p.Ile319fs)
NM_004168.4(SDHA):c.970G>T (p.Glu324Ter)
NM_004168.4(SDHA):c.988dup (p.Tyr330fs)
NM_004168.4(SDHA):c.989dup (p.Tyr330Ter)
NM_004168.4(SDHA):c.990C>A (p.Tyr330Ter)
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer) rs886041867
NM_004168.4(SDHA):c.995_996del (p.Pro332fs) rs1560994766
NM_004168.4(SDHA):c.99_108del (p.Phe33fs) rs1734832099
NM_016169.4(SUFU):c.1009del (p.His337fs) rs869300423
NM_016169.4(SUFU):c.1018del (p.Ala340fs) rs2135889203
NM_016169.4(SUFU):c.1022+1G>A rs587776578
NM_016169.4(SUFU):c.1022del (p.Pro341fs)
NM_016169.4(SUFU):c.1077del (p.Glu359fs) rs2135930082
NM_016169.4(SUFU):c.1123del (p.Gln375fs) rs2135930329
NM_016169.4(SUFU):c.1191del (p.Thr396_Tyr397insTer)
NM_016169.4(SUFU):c.1246_1249dup (p.Phe417fs)
NM_016169.4(SUFU):c.124dup (p.Arg42fs) rs2062292476
NM_016169.4(SUFU):c.138_141del (p.Asp47fs)
NM_016169.4(SUFU):c.14_33del (p.Arg5fs)
NM_016169.4(SUFU):c.157C>T (p.Gln53Ter) rs2135598685
NM_016169.4(SUFU):c.171dup (p.Val58fs) rs1554840869
NM_016169.4(SUFU):c.175A>T (p.Lys59Ter) rs1564654588
NM_016169.4(SUFU):c.222C>G (p.Tyr74Ter)
NM_016169.4(SUFU):c.256G>T (p.Glu86Ter)
NM_016169.4(SUFU):c.341del (p.Ser114fs) rs1060501108
NM_016169.4(SUFU):c.37_53del (p.Thr13fs) rs2135597189
NM_016169.4(SUFU):c.37_53dup (p.Gly19fs) rs2135597189
NM_016169.4(SUFU):c.408G>A (p.Trp136Ter) rs2135743382
NM_016169.4(SUFU):c.454+1G>A rs1564676479
NM_016169.4(SUFU):c.53_59del (p.Pro18fs) rs2135597558
NM_016169.4(SUFU):c.53del (p.Pro18fs) rs2135597588
NM_016169.4(SUFU):c.556C>T (p.Gln186Ter)
NM_016169.4(SUFU):c.576dup (p.Gly193fs) rs2135867295
NM_016169.4(SUFU):c.581del (p.Val194fs)
NM_016169.4(SUFU):c.585_586dup (p.Thr196fs) rs1554852279
NM_016169.4(SUFU):c.637C>T (p.Gln213Ter) rs907135467
NM_016169.4(SUFU):c.642G>A (p.Trp214Ter)
NM_016169.4(SUFU):c.649_661del (p.Gln217fs) rs1590062899
NM_016169.4(SUFU):c.71del (p.Pro24fs) rs587776579
NM_016169.4(SUFU):c.71dup (p.Ala25fs) rs587776579
NM_016169.4(SUFU):c.73dup (p.Ala25fs) rs2135597894
NM_016169.4(SUFU):c.811_818dup (p.Cys273fs) rs2063471372
NM_016169.4(SUFU):c.824G>A (p.Trp275Ter) rs1564698683
NM_016169.4(SUFU):c.825G>A (p.Trp275Ter) rs1590065940
NM_016169.4(SUFU):c.82_86del (p.Ser28fs) rs2135597925
NM_016169.4(SUFU):c.846dup (p.Glu283fs) rs1477199832
NM_016169.4(SUFU):c.847dup (p.Glu283fs) rs2063472158
NM_016169.4(SUFU):c.859_863dup (p.Ser288fs) rs2135881899
NM_016169.4(SUFU):c.87_88del (p.Phe30fs)
NM_016169.4(SUFU):c.886C>T (p.Gln296Ter) rs2135882212
NM_016169.4(SUFU):c.892del (p.Arg298fs) rs2063473101
NM_016169.4(SUFU):c.893_894insTGCCCCG (p.Arg299fs) rs2135882232
NM_016169.4(SUFU):c.894dup (p.Arg299fs)
NM_016169.4(SUFU):c.895C>T (p.Arg299Ter) rs1590066162
NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs) rs1564698850
NM_016169.4(SUFU):c.897_898insAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA (p.Leu300fs)
NM_016169.4(SUFU):c.934del (p.Thr311_Leu312insTer) rs2135888594
NM_016169.4(SUFU):c.95del (p.Pro32fs)
Single allele

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