ClinVar Miner

List of variants reported as likely benign for brain neoplasm by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.429+18T>C rs141451003 0.02288
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) rs148033592 0.01117
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_022124.6(CDH23):c.4846-19G>C rs80261750 0.00835
NM_001904.4(CTNNB1):c.14-4A>G rs5743391 0.00827
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000516.7(GNAS):c.951C>T (p.Arg317=) rs75561530 0.00680
NM_000516.7(GNAS):c.384G>A (p.Val128=) rs3730166 0.00609
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) rs74897360 0.00538
NM_022124.6(CDH23):c.1449+76C>A rs41281304 0.00518
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_080425.4(GNAS):c.1221C>G (p.Thr407=) rs200430001 0.00433
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=) rs4135386 0.00390
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu) rs143240262 0.00376
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_003640.5(ELP1):c.2204+18G>C rs115641835 0.00213
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_080425.4(GNAS):c.484A>G (p.Met162Val) rs138731520 0.00192
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met) rs11573598 0.00155
NM_003738.5(PTCH2):c.1994G>A (p.Arg665His) rs138588008 0.00103
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_016592.5(GNAS):c.537G>A (p.Pro179=) rs181594534 0.00072
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_001904.4(CTNNB1):c.1683+17A>G rs2276826 0.00068
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_022124.6(CDH23):c.832+8A>G rs56129333 0.00048
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=) rs74692094 0.00041
NM_003640.5(ELP1):c.909C>G (p.Val303=) rs142420285 0.00038
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr) rs147669300 0.00037
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_080425.4(GNAS):c.1395A>C (p.Pro465=) rs56213454 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_003640.5(ELP1):c.3855+19G>A rs113767921 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=) rs369047997 0.00025
NM_000516.7(GNAS):c.312+17T>C rs78999525 0.00022
NM_000516.7(GNAS):c.530+11G>A rs74474807 0.00017
NM_003640.5(ELP1):c.3477C>T (p.His1159=) rs141257064 0.00016
NM_003738.5(PTCH2):c.2661C>T (p.His887=) rs149815763 0.00016
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_000516.7(GNAS):c.1038+17_1038+20del rs773644530 0.00013
NM_000516.7(GNAS):c.213-11C>T rs369370389 0.00013
NM_003640.5(ELP1):c.2205-7C>T rs148221146 0.00012
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_003640.5(ELP1):c.1644-13T>C rs557540663 0.00009
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro) rs376517306 0.00008
NM_003640.5(ELP1):c.1599A>G (p.Ala533=) rs771318456 0.00007
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_000516.7(GNAS):c.357G>A (p.Leu119=) rs368741499 0.00006
NM_000516.7(GNAS):c.1039-4G>A rs575570315 0.00005
NM_000516.7(GNAS):c.576G>T (p.Pro192=) rs558915293 0.00005
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=) rs766875245 0.00005
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys) rs184739734 0.00005
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr) rs552813440 0.00005
NM_000516.7(GNAS):c.684C>T (p.Arg228=) rs147984566 0.00004
NM_000516.7(GNAS):c.936T>C (p.Phe312=) rs764458531 0.00004
NM_003640.5(ELP1):c.1536C>T (p.Asp512=) rs751808911 0.00004
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=) rs746303238 0.00004
NM_003640.5(ELP1):c.3932-18T>G rs767184876 0.00004
NM_003640.5(ELP1):c.865-9C>T rs748084965 0.00004
NM_003640.5(ELP1):c.958+20C>T rs370413742 0.00004
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn) rs201342585 0.00004
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000516.7(GNAS):c.1131C>T (p.Asn377=) rs140075370 0.00003
NM_000516.7(GNAS):c.660-19C>T rs370723643 0.00003
NM_003640.5(ELP1):c.2790T>C (p.Asn930=) rs1057521262 0.00003
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=) rs1057522378 0.00002
NM_000546.6(TP53):c.-12C>T rs375229869 0.00002
NM_003640.5(ELP1):c.2587+10C>T rs771045250 0.00002
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=) rs372541751 0.00002
NM_003640.5(ELP1):c.447T>C (p.His149=) rs775602185 0.00002
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=) rs779075029 0.00001
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=) rs786201237 0.00001
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=) rs762458631 0.00001
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=) rs750651726 0.00001
NM_000516.7(GNAS):c.111C>T (p.Tyr37=) rs749235261 0.00001
NM_000516.7(GNAS):c.136C>T (p.Leu46=) rs775009418 0.00001
NM_000516.7(GNAS):c.258-7A>C rs1183884518 0.00001
NM_000516.7(GNAS):c.660-15C>A rs755766644 0.00001
NM_000516.7(GNAS):c.738C>T (p.Phe246=) rs772094317 0.00001
NM_003640.5(ELP1):c.1190-4G>A rs774965847 0.00001
NM_003640.5(ELP1):c.1263A>G (p.Pro421=) rs371100951 0.00001
NM_003640.5(ELP1):c.1909-17C>G rs373498962 0.00001
NM_003640.5(ELP1):c.2460C>T (p.Cys820=) rs181121832 0.00001
NM_003640.5(ELP1):c.2547A>G (p.Pro849=) rs764837607 0.00001
NM_003640.5(ELP1):c.2778A>G (p.Lys926=) rs751179612 0.00001
NM_003640.5(ELP1):c.2847C>T (p.His949=) rs529456133 0.00001
NM_003640.5(ELP1):c.3205T>C (p.Leu1069=) rs112178985 0.00001
NM_003640.5(ELP1):c.3819T>C (p.Ile1273=) rs201242444 0.00001
NM_003640.5(ELP1):c.3855+18C>T rs557015443 0.00001
NM_003640.5(ELP1):c.888A>G (p.Ala296=) rs371923882 0.00001
NM_003977.4(AIP):c.792C>T (p.Asn264=) rs780707460 0.00001
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=) rs370591460
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=) rs80359793
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=) rs786201328
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.75G>A (p.Lys25=) rs1326256762
NM_003640.5(ELP1):c.1644-13dup rs756059162
NM_003640.5(ELP1):c.2283+11_2283+15del rs778115996
NM_003640.5(ELP1):c.2826A>T (p.Arg942=) rs780726202
NM_003640.5(ELP1):c.2908T>C (p.Leu970=) rs180931232
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.958+19_958+20delinsAT rs2132024951
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=) rs747544364
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu) rs876657422
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=) rs377535432
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=) rs372996083
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=) rs1382062973
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro) rs767104257
NM_080425.4(GNAS):c.1428C>G (p.Ala476=) rs559714658
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) rs61749696

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