ClinVar Miner

List of variants reported as pathogenic for brain neoplasm

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 256
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_022124.6(CDH23):c.336+1G>A rs764824311 0.00007
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194 0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965 0.00002
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) rs80359541 0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter) rs761911009 0.00001
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 0.00001
NM_016169.4(SUFU):c.436C>T (p.Arg146Ter) rs1060501109 0.00001
NM_022124.6(CDH23):c.2289+1G>A rs769433759 0.00001
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn) rs771766431 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6319C>T (p.Arg2107Ter) rs1306728898 0.00001
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His) rs1270566026 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.7362+5G>A rs727502931 0.00001
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter) rs1190307769 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) rs372388344 0.00001
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:(102444036_?)_(?_104726221)del
NC_000010.11:g.(?_102504143)_(102550116_?)del
NC_000010.11:g.(?_102549960)_(102550116_?)del
NC_000010.11:g.(?_102593630)_(102597299_?)del
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs) rs80359760
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1794_1798del rs276174813
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.2150del (p.Cys717fs) rs397507618
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter) rs80358494
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs) rs2137510225
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs) rs786203494
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs) rs80359503
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) rs80358785
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter) rs80358807
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.610dup (p.Leu204fs) rs80359560
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) rs80359593
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs) rs397507373
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer) rs80359607
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7617+2T>G rs81002843
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8332-1G>A rs397507979
NM_000059.4(BRCA2):c.8332-1G>C rs397507979
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs) rs276174918
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter) rs397508045
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs) rs80359763
NM_000264.5(PTCH1):c.1237C>T (p.Gln413Ter) rs2118338419
NM_000264.5(PTCH1):c.2244del (p.Ala749fs) rs1564032829
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000516.5:c.(?_-424)_(257_?)dup
NM_000516.7(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg) rs121913494
NM_000516.7(GNAS):c.681G>C (p.Gln227His) rs137854533
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter) rs2089384365
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) rs863223301
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.72dup (p.Leu25fs) rs2151047224
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.4(VHL):c.530_536del (p.Arg177fs) rs1575932266
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.2351_2352delinsC (p.Trp784fs) rs1567848147
NM_001042492.3(NF1):c.4577+1G>A rs1279529138
NM_001370259.2(MEN1):c.1831T>A (p.Ter611Arg) rs1565635212
NM_001375883.1(GPR161):c.487_488del (p.Leu163fs) rs147891461
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) rs775104326
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly) rs137853226
NM_003640.5(ELP1):c.138dup (p.Val47fs) rs1564110292
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.312T>C (p.Cys104=) rs1291760879
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_003977.4(AIP):c.469-1G>A rs267606555
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) rs267606567
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
NM_005154.3(USP8):c.[2138T>G;2150A>G]
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del) rs672601306
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys) rs672601308
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) rs672601311
NM_005631.5(SMO):c.1417G>C (p.Asp473His) rs17710891
NM_006565.4(CTCF):c.610dup (p.Thr204fs) rs886041997
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.111del (p.Tyr38fs) rs863224925
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.143dup (p.Pro49fs) rs1589970134
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.44C>T (p.Pro15Leu) rs28942088
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)
NM_020987.5(ANK3):c.7068dup (p.Glu2357fs)
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) rs1230303971
NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter) rs2132820264
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter) rs397517327
NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter)
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu) rs767004225
NM_022124.6(CDH23):c.4209+1G>T rs727503841
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) rs121908347
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs) rs759981467
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro) rs758382198
NM_022124.6(CDH23):c.5712+1G>A rs397517341
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.6307G>T (p.Glu2103Ter) rs1397549896
NM_022124.6(CDH23):c.6346_6347del (p.Phe2116fs)
NM_022124.6(CDH23):c.6393del (p.Ile2132fs) rs754876029
NM_022124.6(CDH23):c.6620del (p.Leu2207fs)
NM_022124.6(CDH23):c.6968del (p.Pro2323fs) rs397517350
NM_022124.6(CDH23):c.7101G>A (p.Trp2367Ter)
NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter) rs2132968121
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=) rs1292050472
NM_022124.6(CDH23):c.7908C>A (p.Tyr2636Ter)
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) rs878853337
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter) rs1841773052
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024
NM_022124.6(CDH23):c.9319+1G>T
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp) rs1052484950
NM_022124.6(CDH23):c.9489G>A (p.Trp3163Ter)
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) rs397517367
NM_022124.6(CDH23):c.9658del (p.Glu3220fs) rs922700209
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu) rs1556379508
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_152641.4(ARID2):c.1837C>T (p.Gln613Ter)
NM_177438.3(DICER1):c.1498A>T (p.Lys500Ter) rs875989782
NM_177438.3(DICER1):c.4050+1G>A rs875989783
NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs) rs875989784
NM_177438.3(DICER1):c.4633dup (p.Ser1545fs) rs875989781
NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter) rs875989779
NM_177438.3(DICER1):c.5103C>A (p.Tyr1701Ter) rs875989780

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