ClinVar Miner

List of variants reported as uncertain significance by National Health Laboratory Service, Universitas Academic Hospital and University of the Free State

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ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu) rs150390726 0.00051
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441 0.00025
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) rs146243469 0.00022
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095 0.00018
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_000051.4(ATM):c.2887A>G (p.Met963Val) rs374353016 0.00015
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys) rs186333183 0.00015
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr) rs372838622 0.00014
NM_133510.4(RAD51B):c.436G>A (p.Ala146Thr) rs200741476 0.00012
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) rs200649225 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_024675.4(PALB2):c.2586+30G>A rs769118926 0.00009
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly) rs772684048 0.00008
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met) rs80357001 0.00007
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930 0.00006
NM_002485.5(NBN):c.1398-10T>A rs539960851 0.00006
NM_003579.4(RAD54L):c.1138C>T (p.Arg380Trp) rs150138364 0.00006
NM_003579.4(RAD54L):c.1523C>T (p.Thr508Ile) rs573607021 0.00004
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00003
NM_001321818.2(RAD51B):c.1037-88357C>T rs561626209 0.00003
NM_003579.4(RAD54L):c.460C>T (p.Arg154Trp) rs149141765 0.00003
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser) rs80356919 0.00003
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) rs80358398 0.00002
NM_000059.4(BRCA2):c.2299A>C (p.Ser767Arg) rs750755676 0.00002
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe) rs750671399 0.00002
NM_005591.4(MRE11):c.256G>A (p.Asp86Asn) rs763902512 0.00002
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln) rs80357264 0.00002
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala) rs138743097 0.00002
NM_000051.4(ATM):c.6412A>G (p.Arg2138Gly) rs752069869 0.00001
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn) rs541826447 0.00001
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr) rs431825344 0.00001
NM_000465.4(BARD1):c.2029T>C (p.Phe677Leu) rs746790711 0.00001
NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp) rs139785364 0.00001
NM_001018115.3(FANCD2):c.2053G>A (p.Gly685Arg) rs190777319 0.00001
NM_001018115.3(FANCD2):c.3963+8C>T rs201623111 0.00001
NM_002485.5(NBN):c.415A>G (p.Thr139Ala) rs543852763 0.00001
NM_032043.3(BRIP1):c.2477A>G (p.Asn826Ser) rs760127237 0.00001
NM_000051.4(ATM):c.1358C>T (p.Pro453Leu) rs786204124
NM_000051.4(ATM):c.1438T>A (p.Leu480Ile) rs879254243
NM_000051.4(ATM):c.149A>C (p.Lys50Thr) rs1479478300
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del) rs876659575
NM_000051.4(ATM):c.3857G>A (p.Cys1286Tyr) rs876660770
NM_000051.4(ATM):c.8672-6_8672-2del rs2089488857
NM_000059.4(BRCA2):c.-39-5T>G rs2072259508
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly) rs397507283
NM_000059.4(BRCA2):c.2465G>A (p.Cys822Tyr) rs2137486776
NM_000059.4(BRCA2):c.2581C>A (p.Gln861Lys) rs773356478
NM_000059.4(BRCA2):c.3692C>G (p.Thr1231Ser) rs2137499081
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.3950C>G (p.Thr1317Ser) rs1593901002
NM_000059.4(BRCA2):c.4019A>G (p.Asp1340Gly) rs1555283506
NM_000059.4(BRCA2):c.4733T>C (p.Leu1578Ser) rs2137509604
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del) rs397507349
NM_000059.4(BRCA2):c.5459G>A (p.Cys1820Tyr) rs1555284235
NM_000059.4(BRCA2):c.5701G>A (p.Glu1901Lys) rs2137520048
NM_000059.4(BRCA2):c.5893C>G (p.Leu1965Val) rs398122542
NM_000059.4(BRCA2):c.632-47_632-46delinsGT rs2137457893
NM_000059.4(BRCA2):c.6530T>A (p.Ile2177Asn) rs1060502462
NM_000059.4(BRCA2):c.681+28_681+29del rs2137458677
NM_000059.4(BRCA2):c.6889A>G (p.Ile2297Val) rs1566236917
NM_000059.4(BRCA2):c.6893A>G (p.Glu2298Gly) rs2137537139
NM_000059.4(BRCA2):c.7234A>C (p.Thr2412Pro) rs876659118
NM_000059.4(BRCA2):c.7561A>C (p.Ile2521Leu) rs80358983
NM_000059.4(BRCA2):c.7901_7918del (p.Met2634_Pro2639del) rs2137577239
NM_000059.4(BRCA2):c.824A>C (p.Lys275Thr) rs2137465057
NM_000059.4(BRCA2):c.9847G>A (p.Val3283Ile) rs2137664388
NM_000465.4(BARD1):c.1118G>A (p.Gly373Asp) rs568305044
NM_000465.4(BARD1):c.1153G>A (p.Asp385Asn) rs587782436
NM_000465.4(BARD1):c.1352G>A (p.Gly451Glu) rs771410310
NM_000465.4(BARD1):c.1429G>A (p.Val477Met) rs1024564785
NM_000465.4(BARD1):c.1513G>A (p.Gly505Arg) rs864622240
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.4(BARD1):c.401A>G (p.Asn134Ser) rs1559426297
NM_000546.6(TP53):c.116C>T (p.Ala39Val) rs1353016807
NM_000546.6(TP53):c.782+89del rs2073229980
NM_000546.6(TP53):c.97-52G>A rs540683791
NM_001018115.3(FANCD2):c.4067A>G (p.His1356Arg) rs1348547984
NM_001127255.2(NLRP7):c.2642+17TG[6] rs112477133
NM_001127255.2(NLRP7):c.2695C>T (p.Leu899Phe) rs2068636165
NM_001321818.2(RAD51B):c.1037-88328T>G rs2140084406
NM_002485.5(NBN):c.584+46G>A rs1036822606
NM_002485.5(NBN):c.703-3dup rs1811467593
NM_002717.4(PPP2R2A):c.18A>G (p.Gly6=) rs1413011339
NM_003579.4(RAD54L):c.1393_1395del (p.Asp465del) rs773026168
NM_003579.4(RAD54L):c.2197T>G (p.Phe733Val) rs2148309263
NM_005591.4(MRE11):c.1948G>C (p.Asp650His) rs1945595743
NM_007194.4(CHEK2):c.*76dup rs541513166
NM_007294.4(BRCA1):c.1812A>C (p.Lys604Asn) rs2154420505
NM_007294.4(BRCA1):c.1982G>A (p.Arg661Lys) rs2053848136
NM_007294.4(BRCA1):c.2147G>C (p.Ser716Thr) rs1555590369
NM_007294.4(BRCA1):c.2267G>A (p.Arg756Lys) rs975724885
NM_007294.4(BRCA1):c.2619A>T (p.Ser873=) rs1597868763
NM_007294.4(BRCA1):c.3259G>A (p.Gly1087Arg) rs2154334028
NM_007294.4(BRCA1):c.3263T>A (p.Val1088Asp) rs80356901
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3932A>G (p.Asn1311Ser) rs2154276206
NM_007294.4(BRCA1):c.4357+3G>A rs2154144124
NM_007294.4(BRCA1):c.4473A>G (p.Pro1491=) rs2154058477
NM_007294.4(BRCA1):c.4868C>T (p.Ala1623Val) rs80356862
NM_007294.4(BRCA1):c.5005G>A (p.Ala1669Thr) rs80357087
NM_007294.4(BRCA1):c.503A>C (p.Lys168Thr) rs273901743
NM_007294.4(BRCA1):c.5152+80del rs902919427
NM_016507.4(CDK12):c.3566T>G (p.Leu1189Arg) rs56362165
NM_024675.4(PALB2):c.1684+18TGA[6] rs368593832
NM_024675.4(PALB2):c.474G>C (p.Gln158His) rs878855119
NM_133510.4(RAD51B):c.914A>T (p.Asn305Ile) rs2140082871

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