ClinVar Miner

List of variants reported as likely pathogenic for not provided by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

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ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350 0.00066
NM_021870.3(FGG):c.140C>T (p.Thr47Ile) rs138511699 0.00050
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) rs527297896 0.00049
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_001040108.2(MLH3):c.3563C>G (p.Ser1188Ter) rs193219754 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_000400.4(ERCC2):c.1459C>T (p.Arg487Trp) rs562132292 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_001048174.2(MUTYH):c.421-2A>C rs786203161 0.00004
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718 0.00003
NM_000298.6(PKLR):c.401T>A (p.Val134Asp) rs574051756 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_017763.6(RNF43):c.1948C>T (p.Arg650Ter) rs371553160 0.00003
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) rs587778659 0.00003
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys) rs765387131 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_021871.4(FGA):c.1653del (p.Gly552fs) rs773619297 0.00002
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.943_944del (p.Leu315fs) rs768024233 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000231.3(SGCG):c.385+2T>C rs200206447 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000329.3(RPE65):c.344T>C (p.Ile115Thr) rs1645929674 0.00001
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu) rs1060502856 0.00001
NM_000508.3(FGA):c.112A>G (p.Arg38Gly) rs121909608 0.00001
NM_000535.7(PMS2):c.2382dup (p.Gly795fs) rs1231406078 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000791.4(DHFR):c.-476C>G rs1196929384 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter) rs200320654 0.00001
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448 0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) rs369360334 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_003000.3(SDHB):c.143A>T (p.Asp48Val) rs202101384 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_021175.4(HAMP):c.91-1G>A rs761907472 0.00001
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs) rs752780954 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_032043.3(BRIP1):c.627+5G>A rs745727200 0.00001
NM_058216.3(RAD51C):c.905-2del rs876658652 0.00001
NM_000032.5(ALAS2):c.1584del (p.Met528fs)
NM_000037.4(ANK1):c.4218_4219dup (p.Met1407fs)
NM_000037.4(ANK1):c.4585_4588dup (p.Ala1530fs)
NM_000037.4(ANK1):c.4699del (p.Gln1567fs)
NM_000037.4(ANK1):c.4792_4798del (p.His1598fs)
NM_000037.4(ANK1):c.4820C>G (p.Ser1607Ter)
NM_000037.4(ANK1):c.893_897del (p.Ile298fs)
NM_000038.6(APC):c.4219_4220del (p.Gln1406_Ser1407insTer)
NM_000051.4(ATM):c.1190_1191del (p.Lys397fs) rs2079998938
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter) rs1555070678
NM_000051.4(ATM):c.1367T>A (p.Leu456Ter)
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000051.4(ATM):c.2458A>T (p.Lys820Ter)
NM_000051.4(ATM):c.3847_3848dup (p.Leu1283_Thr1284insTer)
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.4(ATM):c.5561_5568dup (p.Ser1857fs)
NM_000051.4(ATM):c.5561del (p.Thr1854fs)
NM_000051.4(ATM):c.5762+1G>A rs869312756
NM_000051.4(ATM):c.6498_6499del (p.Tyr2167fs) rs1060501707
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs) rs1060501547
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8584+1G>A rs876658182
NM_000051.4(ATM):c.875del (p.Pro292fs)
NM_000051.4(ATM):c.923G>A (p.Trp308Ter) rs1591510553
NM_000059.4(BRCA2):c.2361_2362dup (p.Gly788fs)
NM_000059.4(BRCA2):c.3426del (p.Phe1142fs)
NM_000059.4(BRCA2):c.5206_5207del (p.Gln1736fs)
NM_000059.4(BRCA2):c.8331+2T>C rs398122602
NM_000059.4(BRCA2):c.8754+3G>C rs397508007
NM_000061.3(BTK):c.1111T>C (p.Ser371Pro)
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000064.4(C3):c.1774C>T (p.Arg592Trp)
NM_000132.4(F8):c.2098T>C (p.Ser700Pro)
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000135.4(FANCA):c.3G>A (p.Met1Ile)
NM_000143.4(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000179.3(MSH6):c.2222dup (p.Asn741fs)
NM_000179.3(MSH6):c.3697_3733dup (p.Phe1245Ter)
NM_000179.3(MSH6):c.936_945del (p.Lys313fs)
NM_000204.5(CFI):c.162C>G (p.Cys54Trp) rs1553915717
NM_000212.3(ITGB3):c.1639T>G (p.Cys547Gly)
NM_000214.3(JAG1):c.712T>C (p.Cys238Arg)
NM_000249.4(MLH1):c.1038+1G>A rs267607816
NM_000249.4(MLH1):c.1732-2A>C rs267607852
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000251.3(MSH2):c.1661+1G>A rs267607969
NM_000251.3(MSH2):c.1829A>C (p.His610Pro)
NM_000251.3(MSH2):c.195del (p.Lys65fs)
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe) rs63750794
NM_000251.3(MSH2):c.2458+1G>C
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.492del (p.Tyr165fs)
NM_000251.3(MSH2):c.646-1G>T rs1114167888
NM_000298.6(PKLR):c.1705C>T (p.Arg569Trp)
NM_000314.8(PTEN):c.1027G>T (p.Val343Leu)
NM_000314.8(PTEN):c.259C>T (p.Gln87Ter) rs1554898053
NM_000314.8(PTEN):c.703del (p.Glu235fs)
NM_000314.8(PTEN):c.808delinsTTT
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000342.4(SLC4A1):c.1986G>T (p.Trp662Cys)
NM_000342.4(SLC4A1):c.571dup (p.Gln191fs)
NM_000388.4(CASR):c.1657G>A (p.Gly553Arg) rs104893719
NM_000388.4(CASR):c.2182G>T (p.Val728Phe)
NM_000388.4(CASR):c.2776C>T (p.Gln926Ter) rs2107651172
NM_000388.4(CASR):c.440C>T (p.Ser147Leu)
NM_000441.2(SLC26A4):c.1263+1G>A rs1057517000
NM_000443.4(ABCB4):c.2064+3A>T
NM_000465.4(BARD1):c.1321_1324del (p.Ile441fs)
NM_000465.4(BARD1):c.158+2T>G
NM_000465.4(BARD1):c.1904G>A (p.Trp635Ter) rs1692308262
NM_000535.7(PMS2):c.1281del (p.His428fs) rs1783147885
NM_000535.7(PMS2):c.164-2A>G rs587779324
NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_000546.6(TP53):c.646G>T (p.Val216Leu) rs730882025
NM_000551.4(VHL):c.463G>A (p.Val155Met) rs869025659
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.5312-2_5312-1del
NM_000552.5(VWF):c.6334C>T (p.Gln2112Ter)
NM_000552.5(VWF):c.8027G>T (p.Cys2676Phe)
NM_000552.5(VWF):c.8165del (p.Pro2722fs)
NM_001040108.2(MLH3):c.124del (p.Ala42fs)
NM_001040108.2(MLH3):c.3450del (p.Phe1150fs)
NM_001040108.2(MLH3):c.983_986del (p.Ile328fs)
NM_001042492.3(NF1):c.5609+5del
NM_001048174.2(MUTYH):c.1008_1009insCAGGC (p.Lys337fs)
NM_001048174.2(MUTYH):c.1366_1367insT (p.Ala456fs)
NM_001048174.2(MUTYH):c.317_318del (p.Glu106fs) rs2149166157
NM_001082486.2(ACD):c.493+1G>T
NM_001114122.3(CHEK1):c.1036C>T (p.Gln346Ter)
NM_001127511.3(APC):c.-191T>C rs879253783
NM_001130004.2(ACTN1):c.2225G>T (p.Gly742Val)
NM_001170629.2(CHD8):c.3725G>T (p.Arg1242Leu)
NM_001283009.2(RTEL1):c.1949dup (p.Arg651fs)
NM_001348800.3(ZBTB20):c.1714C>T (p.Gln572Ter)
NM_001353345.2(SETD1B):c.2978-2A>G
NM_001355436.2(SPTB):c.3507del (p.Phe1170fs)
NM_001355436.2(SPTB):c.3855+1del
NM_001355436.2(SPTB):c.6119_6120del (p.Thr2040fs) rs2139480757
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu) rs2063927856
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
NM_001364905.1(LRBA):c.5519-1G>A rs1302362911
NM_001370259.2(MEN1):c.1030A>C (p.Thr344Pro)
NM_001370259.2(MEN1):c.1736T>C (p.Leu579Pro)
NM_001370259.2(MEN1):c.609del (p.Asn203fs)
NM_001370259.2(MEN1):c.824G>T (p.Arg275Met)
NM_001429.4(EP300):c.3889A>T (p.Arg1297Ter)
NM_001987.5(ETV6):c.1207A>G (p.Lys403Glu)
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002049.4(GATA1):c.757C>T (p.Arg253Trp)
NM_002049.4(GATA1):c.800C>T (p.Thr267Ile)
NM_002067.5(GNA11):c.735+1G>A
NM_002067.5(GNA11):c.741del (p.Met248fs)
NM_002397.5(MEF2C):c.908T>G (p.Leu303Ter)
NM_002439.5(MSH3):c.146del (p.Pro49fs) rs1580538168
NM_002439.5(MSH3):c.1749del (p.Leu584fs)
NM_002439.5(MSH3):c.322G>T (p.Glu108Ter)
NM_002439.5(MSH3):c.579+1G>A rs2112809006
NM_003000.3(SDHB):c.416T>C (p.Leu139Pro)
NM_003126.4(SPTA1):c.1112+1G>T
NM_003126.4(SPTA1):c.2584G>T (p.Glu862Ter)
NM_003126.4(SPTA1):c.3667C>T (p.Arg1223Ter)
NM_003126.4(SPTA1):c.3792_3793dup (p.Met1265fs)
NM_003126.4(SPTA1):c.6788+1G>A
NM_003128.3(SPTBN1):c.3564+1G>C
NM_003128.3(SPTBN1):c.6277G>T (p.Glu2093Ter)
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) rs1057519448
NM_004168.4(SDHA):c.1319del (p.Glu440fs)
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile) rs1064793490
NM_004360.5(CDH1):c.532-2A>T rs2152130040
NM_004656.4(BAP1):c.2057-2A>C
NM_004656.4(BAP1):c.375+1G>A
NM_005359.6(SMAD4):c.1529dup (p.Pro511fs)
NM_006231.4(POLE):c.2731del (p.Gln911fs) rs1555226051
NM_006231.4(POLE):c.2T>C (p.Met1Thr) rs879254126
NM_006231.4(POLE):c.3264_3275+13del rs761516512
NM_006231.4(POLE):c.3378+3G>T
NM_006231.4(POLE):c.5156C>A (p.Ser1719Ter)
NM_006231.4(POLE):c.6532-19_6532-12delinsA
NM_006445.4(PRPF8):c.3019G>A (p.Asp1007Asn)
NM_006767.4(LZTR1):c.1199T>C (p.Met400Thr)
NM_006852.6(TLK2):c.628-2_628del
NM_007194.4(CHEK2):c.1095+1G>A rs768172525
NM_007194.4(CHEK2):c.1481del (p.Lys494fs) rs2052247122
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007294.4(BRCA1):c.134+5G>C rs80358038
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.2607dup (p.Ala870fs)
NM_007294.4(BRCA1):c.3307_3308insC (p.Cys1103fs) rs1555587988
NM_007294.4(BRCA1):c.4336G>T (p.Glu1446Ter)
NM_007294.4(BRCA1):c.4676-1G>T rs80358008
NM_007294.4(BRCA1):c.4951T>C (p.Ser1651Pro) rs879254042
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro) rs80357074
NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr) rs1597801649
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007294.4(BRCA1):c.5425G>T (p.Val1809Phe) rs28897698
NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro) rs80356996
NM_013275.6(ANKRD11):c.2073dup (p.Asp692fs)
NM_014967.5(FAN1):c.2128C>T (p.Arg710Ter)
NM_015450.3(POT1):c.1623_1624del (p.Phe542fs)
NM_015450.3(POT1):c.255G>C (p.Lys85Asn) rs747851551
NM_015450.3(POT1):c.707del (p.Gly236fs) rs2116505374
NM_015450.3(POT1):c.709del (p.Ser237fs) rs2116505365
NM_015599.3(PGM3):c.-2-185C>T rs565900346
NM_016169.4(SUFU):c.881dup (p.Thr295fs)
NM_016519.6(AMBN):c.295-2A>C
NM_016519.6(AMBN):c.571-1G>C
NM_017415.3(KLHL3):c.1079G>A (p.Arg360Gln) rs1561586322
NM_017679.5(BCAS3):c.2425G>T (p.Gly809Cys)
NM_017763.6(RNF43):c.1009C>T (p.Arg337Ter)
NM_017763.6(RNF43):c.1976dup (p.Pro660fs) rs755128667
NM_018975.4(TERF2IP):c.670+1G>A rs985541014
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg) rs148402804
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442
NM_021135.6(RPS6KA2):c.2076+1G>C
NM_021175.4(HAMP):c.2T>C (p.Met1Thr)
NM_021975.4(RELA):c.29del (p.Pro10fs)
NM_024570.4(RNASEH2B):c.322-3C>G
NM_024675.4(PALB2):c.1660_1666del (p.Glu554fs)
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.211+1G>T rs1555462026
NM_024675.4(PALB2):c.228_229del (p.Ile76fs) rs1555461870
NM_024675.4(PALB2):c.2586+1G>A
NM_024675.4(PALB2):c.2748+1G>T rs753153576
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_032043.3(BRIP1):c.2097+1G>C rs786202941
NM_032043.3(BRIP1):c.2258-1G>T rs1064793887
NM_032043.3(BRIP1):c.2905+2T>A
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_144997.7(FLCN):c.1093_1113del (p.Ala365_Gly371del) rs2144870247
NM_144997.7(FLCN):c.396+1G>A rs2145009900
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_172351.3(CD46):c.602C>T (p.Ser201Leu)
NM_172351.3(CD46):c.685C>T (p.Arg229Ter) rs1553251787
NM_177438.3(DICER1):c.4206+1G>C
NM_182641.4(BPTF):c.1864+712dup
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) rs876661298
NM_198253.3(TERT):c.219+2T>C rs2126691326
NM_198904.4(GABRG2):c.1231G>T (p.Glu411Ter)
NM_207122.2(EXT2):c.1495+1G>A

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