ClinVar Miner

List of variants reported as pathogenic for not specified by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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ClinVar version:
Total variants: 495
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000144.5(FXN):c.118C>T (p.Arg40Cys) rs145854903 0.00041
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165 0.00017
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_013296.5(GPSM2):c.1062+1G>T rs777695770 0.00006
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000 0.00005
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs) rs80359505 0.00004
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys) rs138871700 0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421 0.00004
NM_000492.4(CFTR):c.1766+1G>A rs121908748 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_003060.4(SLC22A5):c.1053-2A>C rs777004046 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000071.3(CBS):c.959T>C (p.Val320Ala) rs781567152 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000517.6(HBA2):c.95+1G>A rs63750158 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288 0.00001
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter) rs80358556 0.00001
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs) rs80359436 0.00001
NM_000059.4(BRCA2):c.4689G>A (p.Trp1563Ter) rs886038108 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000133.4(F9):c.1150C>T (p.Arg384Ter) rs137852261 0.00001
NM_000133.4(F9):c.354G>A (p.Trp118Ter) rs1234002716 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter) rs113422242 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 0.00001
NM_000179.3(MSH6):c.628-2A>G rs1114167725 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000298.6(PKLR):c.101-1G>A rs1448381947 0.00001
NM_000350.3(ABCA4):c.123G>A (p.Trp41Ter) rs748357067 0.00001
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile) rs77409459 0.00001
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter) rs121908760 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) rs121909019 0.00001
NM_000517.6(HBA2):c.98T>G (p.Met33Arg) rs1468615416 0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001364905.1(LRBA):c.2479C>T (p.Arg827Ter) rs779575307 0.00001
NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter) rs780673293 0.00001
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val) rs80357069 0.00001
NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter) rs886038200 0.00001
NM_022041.4(GAN):c.851+1G>A rs747291494 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) rs1555152520
NM_000020.3(ACVRL1):c.271del (p.Asp91fs) rs1555152526
NM_000020.3(ACVRL1):c.525+1G>A rs1555152710
NM_000020.3(ACVRL1):c.626-3C>G rs1555152899
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) rs387906391
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs) rs1555152955
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1440del (p.Ile481fs) rs1557054318
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter) rs1557052555
NM_000038.6(APC):c.1370C>G (p.Ser457Ter) rs1060503333
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000038.6(APC):c.3146G>A (p.Trp1049Ter) rs876658667
NM_000038.6(APC):c.3523C>T (p.Gln1175Ter) rs1554085081
NM_000038.6(APC):c.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.532-1G>A rs1554072547
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.834+1G>A rs1554076225
NM_000051.3(ATM):c.3666A[5] (p.Asn1223Lysfs) rs1555092425
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs) rs863225466
NM_000059.4(BRCA2):c.1329del (p.Asn444fs) rs869320781
NM_000059.4(BRCA2):c.2103_2106del (p.Phe701fs) rs80359324
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter) rs80358659
NM_000059.4(BRCA2):c.4211_4215del (p.Thr1403_Ser1404insTer) rs786203340
NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter) rs80358670
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs) rs397507720
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs) rs80359477
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter) rs80358994
NM_000059.4(BRCA2):c.7977-1G>C rs81002874
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter) rs397507411
NM_000059.4(BRCA2):c.8837T>A (p.Leu2946Ter) rs431825371
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg) rs1555977339
NM_000061.3(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000088.4(COL1A1):c.1720del (p.Arg574fs) rs1555573621
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) rs67368147
NM_000088.4(COL1A1):c.2128-1G>C rs67543897
NM_000088.4(COL1A1):c.2298_2299inv (p.Gly767Ser)
NM_000088.4(COL1A1):c.2829+1G>A rs72653156
NM_000116.5(TAFAZZIN):c.483del (p.Met162fs) rs1557193815
NM_000132.4(F8):c.1350C>A (p.Tyr450Ter) rs1557281954
NM_000132.4(F8):c.1589A>G (p.Tyr530Cys) rs1557281265
NM_000132.4(F8):c.270del (p.Leu90_Leu91insTer) rs1557285171
NM_000132.4(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000133.4(F9):c.1106_1113del (p.Leu369fs) rs1603267391
NM_000133.4(F9):c.1113C>A (p.Tyr371Ter) rs1603267398
NM_000133.4(F9):c.1120G>T (p.Val374Phe) rs137852271
NM_000133.4(F9):c.1135C>T (p.Arg379Ter) rs137852258
NM_000133.4(F9):c.1136G>A (p.Arg379Gln) rs137852259
NM_000133.4(F9):c.1173T>A (p.Tyr391Ter) rs1603267411
NM_000133.4(F9):c.1186T>A (p.Cys396Ser) rs1603267420
NM_000133.4(F9):c.1241C>T (p.Pro414Leu) rs1603267443
NM_000133.4(F9):c.127C>T (p.Arg43Trp) rs1603264205
NM_000133.4(F9):c.128G>A (p.Arg43Gln) rs1275708479
NM_000133.4(F9):c.1304G>A (p.Cys435Tyr) rs1385141619
NM_000133.4(F9):c.1325G>A (p.Gly442Glu) rs1603267474
NM_000133.4(F9):c.1361T>C (p.Ile454Thr) rs1603267486
NM_000133.4(F9):c.226G>A (p.Glu76Lys) rs1603264236
NM_000133.4(F9):c.252+5G>A rs1266788575
NM_000133.4(F9):c.260T>G (p.Phe87Cys) rs1603264299
NM_000133.4(F9):c.304T>C (p.Cys102Arg) rs1603264719
NM_000133.4(F9):c.344A>G (p.Tyr115Cys) rs1603264727
NM_000133.4(F9):c.38del (p.Gly13fs) rs1603263376
NM_000133.4(F9):c.392-1G>C rs1603265480
NM_000133.4(F9):c.416G>A (p.Gly139Asp) rs1216516070
NM_000133.4(F9):c.422G>A (p.Cys141Tyr) rs1351675410
NM_000133.4(F9):c.427C>T (p.Gln143Ter) rs1603265487
NM_000133.4(F9):c.484C>T (p.Arg162Ter) rs137852272
NM_000133.4(F9):c.509G>A (p.Cys170Tyr) rs1603265500
NM_000133.4(F9):c.533G>T (p.Cys178Phe) rs1603265779
NM_000133.4(F9):c.719G>A (p.Trp240Ter) rs1603265827
NM_000133.4(F9):c.720G>A (p.Trp240Ter) rs1603265830
NM_000133.4(F9):c.723+1G>A rs1603265832
NM_000133.4(F9):c.731T>C (p.Leu244Ser) rs1603267171
NM_000133.4(F9):c.88+1G>T rs1603263397
NM_000133.4(F9):c.880C>T (p.Arg294Ter) rs137852248
NM_000133.4(F9):c.892C>T (p.Arg298Ter) rs137852250
NM_000133.4(F9):c.947T>C (p.Ile316Thr) rs1603267344
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly) rs794728326
NM_000138.5(FBN1):c.1532A>G (p.Tyr511Cys) rs1555400281
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.163G>T (p.Gly55Ter) rs1566944812
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.1961-2A>G rs1555399779
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2858del (p.Ile953fs) rs1555398836
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs) rs113603747
NM_000138.5(FBN1):c.3856del (p.Asp1285_Leu1286insTer) rs1555398170
NM_000138.5(FBN1):c.4816+2T>C rs1597547226
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter) rs1555395750
NM_000138.5(FBN1):c.6087C>A (p.Cys2029Ter) rs1555395475
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.7032_7054del (p.Asn2346fs) rs1597518038
NM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter) rs1566892727
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.524G>A (p.Gly175Asp) rs111033718
NM_000155.4(GALT):c.748C>A (p.Pro250Thr) rs111033759
NM_000179.3(MSH6):c.1241G>A (p.Trp414Ter) rs587779914
NM_000179.3(MSH6):c.1795G>T (p.Gly599Ter) rs756043669
NM_000179.3(MSH6):c.2429del (p.Glu810fs) rs1572727176
NM_000179.3(MSH6):c.3586G>T (p.Glu1196Ter) rs75095286
NM_000180.4(GUCY2D):c.2513G>C (p.Arg838Pro) rs61750173
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
NM_000238.4(KCNH2):c.1557+1G>C rs886039043
NM_000249.4(MLH1):c.207+2T>C rs267607722
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs) rs63751618
NM_000251.3(MSH2):c.2634+1G>A rs267608019
NM_000251.3(MSH2):c.263_264del (p.Phe88fs) rs267607920
NM_000251.3(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000256.3(MYBPC3):c.2149-1G>A rs727504334
NM_000297.4(PKD2):c.2159del (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2523-1G>A rs1553928728
NM_000297.4(PKD2):c.481_502del (p.Gly161fs) rs1553923513
NM_000298.6(PKLR):c.169C>T (p.Gln57Ter) rs772567442
NM_000298.6(PKLR):c.507+1G>A rs1572057140
NM_000314.8(PTEN):c.1027-2A>C rs1085308041
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.8(PTEN):c.705del (p.Asp236fs) rs1554825202
NM_000314.8(PTEN):c.938del (p.Lys313fs) rs1554825571
NM_000335.5(SCN5A):c.1657G>T (p.Glu553Ter) rs1207394743
NM_000342.4(SLC4A1):c.1469G>A (p.Arg490His) rs1598299485
NM_000342.4(SLC4A1):c.243G>A (p.Trp81Ter) rs1598302037
NM_000346.4(SOX9):c.1099_1100delinsG (p.Pro367fs) rs1555629374
NM_000346.4(SOX9):c.1312_1330del (p.Ser438fs) rs1598176962
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.4(TTR):c.95T>C (p.Leu32Pro) rs121918094
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000441.2(SLC26A4):c.765+2T>C rs397516432
NM_000455.5(STK11):c.772del (p.Asp258fs) rs1599927589
NM_000492.4(CFTR):c.1210-2A>C rs397508179
NM_000492.4(CFTR):c.1340del (p.Lys447fs) rs397508192
NM_000492.4(CFTR):c.1393-1G>A rs397508200
NM_000492.4(CFTR):c.1766+1G>C rs121908748
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs) rs397508325
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2428A>T (p.Arg810Ter) rs377447726
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg) rs36210737
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) rs397508706
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter) rs397508775
NM_000492.4(CFTR):c.708del (p.Gln237fs) rs1299250440
NM_000518.4(HBB):c.-80T>A rs33980857
NM_000518.4(HBB):c.275T>C (p.Leu92Pro) rs33917785
NM_000518.5(HBB):c.113G>A (p.Trp38Ter) rs33991059
NM_000518.5(HBB):c.371_378del (p.Thr124fs) rs1554917561
NM_000518.5(HBB):c.383A>C (p.Gln128Pro) rs33910569
NM_000518.5(HBB):c.3G>A (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.431A>C (p.His144Pro) rs33918338
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.92+2T>G rs33956879
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000531.6(OTC):c.830G>A (p.Arg277Gln) rs66724222
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000546.6(TP53):c.416del (p.Lys139fs) rs1597371266
NM_000546.6(TP53):c.790del (p.Leu264fs) rs1060501194
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter) rs45517270
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter) rs45517396
NM_000551.4(VHL):c.477del (p.Glu160fs) rs730882020
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4382C>T (p.Ala1461Val) rs61750089
NM_000552.5(VWF):c.4496T>A (p.Val1499Glu) rs1555194979
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000558.5(HBA1):c.45G>A (p.Trp15Ter) rs1596573335
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_001009944.3(PKD1):c.11274_11275del (p.Tyr3759fs) rs1555446105
NM_001009944.3(PKD1):c.11538-2del rs1555445595
NM_001009944.3(PKD1):c.11713-1G>A rs867092741
NM_001009944.3(PKD1):c.11912del (p.Pro3971fs) rs1555445123
NM_001009944.3(PKD1):c.1307_1308del (p.Cys436fs) rs1555458891
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter) rs1555457446
NM_001009944.3(PKD1):c.3285C>A (p.Tyr1095Ter) rs558648661
NM_001009944.3(PKD1):c.4258G>T (p.Glu1420Ter) rs1555456139
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.8905C>T (p.Gln2969Ter) rs200520583
NM_001009944.3(PKD1):c.9994del (p.Val3332fs) rs1555449235
NM_001042492.3(NF1):c.1009G>T (p.Glu337Ter) rs747241884
NM_001042492.3(NF1):c.1094C>G (p.Ser365Ter) rs864622107
NM_001042492.3(NF1):c.1178del (p.His393fs) rs1555611037
NM_001042492.3(NF1):c.1185+2T>G rs1555611043
NM_001042492.3(NF1):c.1532del (p.Pro511fs) rs1597703352
NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs) rs786204059
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.204+1G>A rs886039548
NM_001042492.3(NF1):c.2077_2078del (p.Met693fs) rs1555613795
NM_001042492.3(NF1):c.2325+1G>A rs1555613933
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter) rs1555613983
NM_001042492.3(NF1):c.2407C>T (p.Gln803Ter) rs1567848213
NM_001042492.3(NF1):c.2553C>A (p.Cys851Ter) rs2230852
NM_001042492.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_001042492.3(NF1):c.3076A>T (p.Arg1026Ter) rs1555614529
NM_001042492.3(NF1):c.334C>T (p.Gln112Ter) rs1555606061
NM_001042492.3(NF1):c.338del (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.3537del (p.Phe1179fs) rs1555615026
NM_001042492.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_001042492.3(NF1):c.3757_3797del (p.Leu1253fs) rs1555615447
NM_001042492.3(NF1):c.3790G>T (p.Glu1264Ter) rs863224660
NM_001042492.3(NF1):c.3974+1G>A rs1567852849
NM_001042492.3(NF1):c.4015_4028del (p.Asn1338_Leu1339insTer) rs1597735056
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.3(NF1):c.4577+1G>A rs1279529138
NM_001042492.3(NF1):c.4669del (p.Thr1557fs) rs1597748891
NM_001042492.3(NF1):c.4700C>G (p.Ser1567Ter) rs1555619051
NM_001042492.3(NF1):c.4892T>G (p.Leu1631Ter) rs1555533292
NM_001042492.3(NF1):c.5333_5334del (p.Phe1778fs) rs1555533566
NM_001042492.3(NF1):c.551del (p.Asn184fs) rs1555607102
NM_001042492.3(NF1):c.5765_5766del (p.Leu1922fs) rs1555533880
NM_001042492.3(NF1):c.5780del (p.Leu1927fs) rs1135402880
NM_001042492.3(NF1):c.6246del (p.Arg2083fs) rs1597842843
NM_001042492.3(NF1):c.6373_6376del (p.Leu2125fs) rs1555534755
NM_001042492.3(NF1):c.654+1G>A rs1060500245
NM_001042492.3(NF1):c.6583_6586del (p.Glu2195fs) rs1131691084
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.7040del (p.Ser2347fs) rs1597848220
NM_001042492.3(NF1):c.7117C>T (p.Gln2373Ter) rs1555535417
NM_001042492.3(NF1):c.7288G>T (p.Glu2430Ter) rs1555536035
NM_001042492.3(NF1):c.731-1_731del rs1555608925
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7474C>T (p.Gln2492Ter) rs1555536340
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7970+1G>A rs1555536773
NM_001042492.3(NF1):c.801G>A (p.Trp267Ter) rs1064794273
NM_001042492.3(NF1):c.889-2A>G rs878853922
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001065.4(TNFRSF1A):c.251G>A (p.Cys84Tyr) rs104895224
NM_001081.4(CUBN):c.2496dup (p.Pro833fs) rs1554816715
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.746del (p.Gly249fs) rs61749743
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1501G>T (p.Gly501Ter) rs372072854
NM_001114753.3(ENG):c.1541del (p.Gly514fs) rs1554809268
NM_001114753.3(ENG):c.1686+1G>A rs1554809228
NM_001114753.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.220-1G>A rs1554810936
NM_001114753.3(ENG):c.41T>C (p.Leu14Pro) rs1554813788
NM_001114753.3(ENG):c.760C>T (p.Gln254Ter) rs1554810234
NM_001114753.3(ENG):c.765del (p.Tyr258fs) rs1554810232
NM_001204.7(BMPR2):c.1077_1078del (p.Gly360fs) rs1574493773
NM_001204.7(BMPR2):c.1506del (p.Glu503fs) rs1553512523
NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr) rs1085307215
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) rs28937896
NM_001250.6(CD40):c.256+2T>C rs774195387
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001355436.2(SPTB):c.1A>G (p.Met1Val) rs121918651
NM_001355436.2(SPTB):c.3128G>A (p.Trp1043Ter) rs1594775390
NM_001355436.2(SPTB):c.4058del (p.Lys1353fs) rs1594770057
NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter) rs1594767593
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) rs1557229599
NM_001360016.2(G6PD):c.1465C>T (p.Pro489Ser) rs1603411177
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter) rs864622615
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.350del (p.Leu117fs) rs1555166387
NM_001370259.2(MEN1):c.514G>T (p.Asp172Tyr) rs1114167494
NM_001370259.2(MEN1):c.783+1G>A rs794728652
NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter) rs1555165128
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp) rs397514436
NM_001844.5(COL2A1):c.1537G>A (p.Gly513Ser) rs1555167156
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002890.3(RASA1):c.1103-2A>C rs1484719321
NM_002890.3(RASA1):c.1534C>T (p.Arg512Ter) rs1554048066
NM_002890.3(RASA1):c.1703G>A (p.Trp568Ter) rs1580375996
NM_002890.3(RASA1):c.2604-2A>C rs1554049882
NM_002890.3(RASA1):c.431_438del (p.Pro144fs) rs1580179449
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.3(SDHB):c.72+1G>T rs587782703
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter) rs1050032491
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_003238.6(TGFB2):c.821dup (p.Asn274fs) rs863223796
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004006.3(DMD):c.1481del (p.Lys494fs) rs1556853022
NM_004006.3(DMD):c.1704+1G>A rs794727123
NM_004006.3(DMD):c.2101G>T (p.Glu701Ter) rs1556780711
NM_004006.3(DMD):c.2416G>T (p.Glu806Ter) rs1557383761
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter) rs753662330
NM_004006.3(DMD):c.4060del (p.Leu1354fs) rs1557357445
NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter) rs398123948
NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter) rs863224997
NM_004006.3(DMD):c.4845+2T>G rs1557315881
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter) rs398123981
NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter) rs777864641
NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter) rs773643220
NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs) rs863225006
NM_004006.3(DMD):c.6614+2T>C rs1060502641
NM_004006.3(DMD):c.686T>G (p.Leu229Ter) rs1556930769
NM_004006.3(DMD):c.7899G>A (p.Trp2633Ter) rs1556790316
NM_004006.3(DMD):c.8391-2A>G rs1556665303
NM_004006.3(DMD):c.8782A>T (p.Lys2928Ter) rs1556656298
NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter) rs1556656184
NM_004006.3(DMD):c.9180del (p.Trp3061fs) rs1569526156
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005413.4(SIX3):c.339G>T (p.Trp113Cys) rs137853021
NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005902.4(SMAD3):c.539del (p.Pro180fs) rs1555412294
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) rs515726210
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) rs80359880
NM_007294.4(BRCA1):c.1110del (p.Pro371fs) rs1555592474
NM_007294.4(BRCA1):c.1127del (p.Asn376fs) rs80357821
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter) rs80356893
NM_007294.4(BRCA1):c.1999C>T (p.Gln667Ter) rs80356889
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2398_2401del (p.Lys800fs) rs786202684
NM_007294.4(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.4(BRCA1):c.2713C>T (p.Gln905Ter) rs397509002
NM_007294.4(BRCA1):c.2940del (p.Pro981fs) rs80357876
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter) rs28897686
NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter) rs80357318
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.4987-1G>A rs730881495
NM_007294.4(BRCA1):c.5193+1del rs397509236
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter) rs104894650
NM_014804.3(KIAA0753):c.1571_1572del (p.Arg524fs) rs770256450
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.493C>T (p.His165Tyr) rs119103262
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter) rs1586350727
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.559C>T (p.Gln187Ter) rs1586248834
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_020975.6(RET):c.1826G>T (p.Cys609Phe) rs77939446
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) rs77316810
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_053274.3(GLMN):c.1179_1181del (p.Asn393del) rs773442562
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1188del (p.Val397fs) rs1567809782
NM_144997.7(FLCN):c.1301-2A>G rs1555607296
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.507G>A (p.Trp169Ter) rs1555610290
NM_147127.5(EVC2):c.1110del (p.Glu371fs) rs1553846613
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter) rs779857359
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_181523.3(PIK3R1):c.1425+1G>C rs587777709
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194454.3(KRIT1):c.1315G>T (p.Gly439Ter) rs1584881660
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter) rs267607203
NM_194454.3(KRIT1):c.1807del (p.His603fs) rs886039572
NM_194454.3(KRIT1):c.1890G>A (p.Trp630Ter) rs1554503009
NM_194454.3(KRIT1):c.1932dup (p.Phe645fs) rs1554502927
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
m.3271T>C rs199474658

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