ClinVar Miner

List of variants reported as likely pathogenic by Mayo Clinic Laboratories, Mayo Clinic

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 492
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HGVS dbSNP
G6PD NARA rs587776730
NM_000020.2(ACVRL1):c.1046T>C (p.Leu349Pro) rs765895870
NM_000020.2(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.1048+1G>A
NM_000020.3(ACVRL1):c.199C>G (p.Arg67Gly)
NM_000023.4(SGCA):c.795del (p.Asp266fs)
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) rs387906496
NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) rs34526199
NM_000037.4(ANK1):c.1412del (p.Gln471fs)
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.2014del (p.Leu672fs)
NM_000037.4(ANK1):c.2960+1G>A
NM_000037.4(ANK1):c.3186C>G (p.Tyr1062Ter)
NM_000037.4(ANK1):c.3188del (p.Phe1063fs)
NM_000037.4(ANK1):c.3235G>T (p.Glu1079Ter)
NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile)
NM_000037.4(ANK1):c.4694del (p.Asp1565fs)
NM_000037.4(ANK1):c.4813del (p.Ala1605fs)
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter) rs137852831
NM_000037.4(ANK1):c.911_912del (p.Asn304fs)
NM_000038.6(APC):c.1045C>T (p.Gln349Ter) rs863225307
NM_000038.6(APC):c.1229dup (p.Leu410fs) rs863225308
NM_000038.6(APC):c.135+2T>C rs1554067164
NM_000038.6(APC):c.1433T>G (p.Leu478Ter) rs863225314
NM_000038.6(APC):c.1494del (p.Arg498fs) rs1554081719
NM_000038.6(APC):c.1525_1527del (p.Thr509del) rs863225315
NM_000038.6(APC):c.1549-1G>A rs863225316
NM_000038.6(APC):c.1609del (p.Ser537fs) rs863225317
NM_000038.6(APC):c.1626+1G>A rs1554081934
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.1867C>T (p.Arg623Trp) rs730881238
NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs) rs863225319
NM_000038.6(APC):c.1997_1999delinsA (p.Leu666_Gln667delinsTer) rs863225323
NM_000038.6(APC):c.207del (p.Glu70fs) rs863225325
NM_000038.6(APC):c.2183del (p.Asn728fs) rs863225326
NM_000038.6(APC):c.2186del (p.Leu729fs)
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.2260del (p.Val754fs)
NM_000038.6(APC):c.2343del (p.Lys782fs) rs1554084080
NM_000038.6(APC):c.2624dup (p.Arg876fs) rs863225330
NM_000038.6(APC):c.2759del (p.Asn920fs) rs863225331
NM_000038.6(APC):c.2825del (p.Asn942fs) rs1554084511
NM_000038.6(APC):c.2886del (p.Asp962fs) rs863225334
NM_000038.6(APC):c.2926dup (p.Arg976fs) rs1554084587
NM_000038.6(APC):c.301G>T (p.Gly101Ter) rs863225335
NM_000038.6(APC):c.3054_3063del (p.Asp1018fs) rs863225336
NM_000038.6(APC):c.3079dup (p.Tyr1027fs) rs863225337
NM_000038.6(APC):c.3133C>T (p.Gln1045Ter)
NM_000038.6(APC):c.3135_3136del (p.Gln1045_Asn1046insTer) rs863225339
NM_000038.6(APC):c.3139G>T (p.Glu1047Ter) rs568149455
NM_000038.6(APC):c.3298_3301del (p.Ser1100fs) rs863225341
NM_000038.6(APC):c.3304_3307del (p.Tyr1102fs) rs863225342
NM_000038.6(APC):c.3535dup (p.Tyr1179fs) rs863225343
NM_000038.6(APC):c.3578del (p.Gln1193fs) rs1554085131
NM_000038.6(APC):c.3602C>A (p.Ser1201Ter) rs730881247
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) rs863225345
NM_000038.6(APC):c.3791dup (p.Glu1265fs) rs863225346
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter) rs863225348
NM_000038.6(APC):c.3939_3940dup (p.Arg1314fs) rs863225350
NM_000038.6(APC):c.4075A>T (p.Lys1359Ter) rs863225352
NM_000038.6(APC):c.4166del (p.Ser1389fs) rs863225353
NM_000038.6(APC):c.4495G>T (p.Gly1499Ter) rs756912930
NM_000038.6(APC):c.4616C>A (p.Ser1539Ter) rs1554086008
NM_000038.6(APC):c.4634C>G (p.Ser1545Ter) rs863225356
NM_000038.6(APC):c.4647del (p.Glu1550fs) rs879254283
NM_000038.6(APC):c.4655_4656del (p.Glu1552fs)
NM_000038.6(APC):c.4733_4734del (p.Cys1578fs) rs863225359
NM_000038.6(APC):c.475dup (p.Tyr159fs) rs863225361
NM_000038.6(APC):c.4793_4800delinsTGG (p.Ala1598fs) rs886039641
NM_000038.6(APC):c.5005_5008del (p.Ala1670fs) rs1554086363
NM_000038.6(APC):c.5145del (p.Asp1715fs) rs863225363
NM_000038.6(APC):c.524_531+4del rs863225364
NM_000038.6(APC):c.531+2T>A rs863225365
NM_000038.6(APC):c.531+2T>C rs863225365
NM_000038.6(APC):c.5804dup (p.Ser1936fs) rs863225367
NM_000038.6(APC):c.5936del (p.Asn1979fs) rs863225368
NM_000038.6(APC):c.5996del (p.Pro1999fs) rs863225369
NM_000038.6(APC):c.677del (p.Lys226fs) rs863225371
NM_000038.6(APC):c.7270_7273del (p.Ser2424fs) rs1469278346
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter) rs755046558
NM_000038.6(APC):c.800del (p.Gly267fs) rs863225372
NM_000038.6(APC):c.935dup (p.Glu313fs) rs587781451
NM_000051.3(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.2188dup (p.Asp730fs)
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) rs777629392
NM_000053.4(ATP7B):c.2692C>T (p.Gln898Ter)
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3089G>A (p.Gly1030Asp)
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val)
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp) rs775541743
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000089.4(COL1A2):c.1349_1350+2del
NM_000089.4(COL1A2):c.3196G>A (p.Gly1066Ser)
NM_000090.3(COL3A1):c.2105G>T (p.Gly702Val) rs587779512
NM_000090.4(COL3A1):c.530G>T (p.Gly177Val)
NM_000090.4(COL3A1):c.638G>A (p.Gly213Asp)
NM_000098.3(CPT2):c.1119_1120del (p.Trp374fs)
NM_000119.3(EPB42):c.949C>T (p.Arg317Cys) rs515726212
NM_000128.3(F11):c.1199C>T (p.Pro400Leu) rs533335580
NM_000128.3(F11):c.1288G>A (p.Ala430Thr) rs753909969
NM_000128.4(F11):c.595+3A>G rs933333847
NM_000131.4(F7):c.805+3_805+6del rs754785708
NM_000132.3(F8):c.6371A>G (p.Tyr2124Cys) rs137852459
NM_000132.4(F8):c.*56G>T
NM_000132.4(F8):c.6305G>A (p.Gly2102Asp)
NM_000132.4(F8):c.6658G>C (p.Ala2220Pro)
NM_000133.4(F9):c.478G>C (p.Gly160Arg)
NM_000138.4(FBN1):c.4538G>A (p.Cys1513Tyr) rs1555397204
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr)
NM_000138.5(FBN1):c.4936T>A (p.Cys1646Ser)
NM_000138.5(FBN1):c.5296+5G>A
NM_000138.5(FBN1):c.5960G>A (p.Gly1987Asp)
NM_000138.5(FBN1):c.6695G>C (p.Cys2232Ser)
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys)
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319
NM_000153.4(GALC):c.293dup (p.Leu98fs)
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)
NM_000157.4(GBA):c.593C>T (p.Pro198Leu)
NM_000157.4(GBA):c.701G>A (p.Gly234Glu) rs74462743
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634
NM_000178.4(GSS):c.533del (p.Lys178fs)
NM_000178.4(GSS):c.754C>T (p.Arg252Ter) rs749741013
NM_000179.2(MSH6):c.1135A>T (p.Arg379Ter) rs1432436629
NM_000179.2(MSH6):c.1312dup (p.Met438fs) rs863225399
NM_000179.2(MSH6):c.1883G>A (p.Trp628Ter) rs863225401
NM_000179.2(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.2(MSH6):c.2095G>T (p.Glu699Ter) rs1553413470
NM_000179.2(MSH6):c.260+2T>A rs1553408469
NM_000179.2(MSH6):c.260+3A>G rs1553408474
NM_000179.2(MSH6):c.2805_2806del (p.Asp936fs) rs863225403
NM_000179.2(MSH6):c.2932C>T (p.Gln978Ter) rs587781372
NM_000179.2(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.2(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.2(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.2(MSH6):c.3626_3627del (p.Leu1209fs) rs863225409
NM_000179.2(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1483C>T rs587779212
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs) rs1064794384
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs) rs267608114
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.3999dup (p.Arg1334fs) rs863225418
NM_000182.5(HADHA):c.1167dup (p.Lys390Ter)
NM_000186.4(CFH):c.1927G>T (p.Glu643Ter)
NM_000186.4(CFH):c.2057-1G>A
NM_000186.4(CFH):c.3593A>G (p.Glu1198Gly)
NM_000186.4(CFH):c.694C>T (p.Arg232Ter)
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780
NM_000204.4(CFI):c.355G>A (p.Gly119Arg) rs141853578
NM_000204.5(CFI):c.1149-2A>T
NM_000204.5(CFI):c.1650_1651del (p.Cys550fs)
NM_000238.4(KCNH2):c.2146-1G>A
NM_000238.4(KCNH2):c.221_242del (p.Thr74fs)
NM_000249.3(MLH1):c.1258del (p.Ser420fs) rs863225373
NM_000249.3(MLH1):c.1558+1G>A rs267607832
NM_000249.3(MLH1):c.1719del (p.Leu574fs) rs863225377
NM_000249.3(MLH1):c.1990-2A>G rs267607883
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.583A>T (p.Lys195Ter) rs863225383
NM_000249.4(MLH1):c.112A>T (p.Asn38Tyr)
NM_000249.4(MLH1):c.673dup (p.Ser225fs) rs1575469505
NM_000251.2(MSH2):c.1090del (p.Glu364fs) rs863225385
NM_000251.2(MSH2):c.1177A>T (p.Lys393Ter) rs863225386
NM_000251.2(MSH2):c.1237C>T (p.Gln413Ter) rs863225387
NM_000251.2(MSH2):c.1276+2T>C rs267607953
NM_000251.2(MSH2):c.1481C>G (p.Ser494Ter) rs370970617
NM_000251.2(MSH2):c.1538_1539del (p.Leu513fs) rs863225391
NM_000251.2(MSH2):c.1759+1G>A rs587779108
NM_000251.2(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.2(MSH2):c.2004T>A (p.Thr668=) rs1553368731
NM_000251.2(MSH2):c.2005+2dup rs541623924
NM_000251.2(MSH2):c.20del (p.Glu7fs) rs267607915
NM_000251.2(MSH2):c.2295_2296insTA (p.Ile766Ter) rs863225393
NM_000251.2(MSH2):c.2300C>G (p.Ser767Ter) rs863225395
NM_000251.2(MSH2):c.2494G>T (p.Glu832Ter) rs863225396
NM_000251.2(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.2(MSH2):c.793-1G>A rs863225397
NM_000251.2(MSH2):c.793-?_1276+?dup
NM_000251.2(MSH2):c.871del (p.Glu290_Leu291insTer) rs1064794809
NM_000251.3(MSH2):c.1982_1985del rs587779120
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer) rs587779164
NM_000256.3(MYBPC3):c.1791-1G>A
NM_000256.3(MYBPC3):c.1927+1G>A
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280
NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys) rs730880602
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911
NM_000257.4(MYH7):c.2114G>A (p.Cys705Tyr) rs1555337916
NM_000262.3(NAGA):c.418C>T (p.Gln140Ter)
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795
NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter) rs1555633361
NM_000286.3(PEX12):c.260_261insAA (p.Tyr87Ter)
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000289.6(PFKM):c.1596del (p.Asn532fs)
NM_000292.3(PHKA2):c.2433dup (p.Gly812fs) rs1555995635
NM_000298.6(PKLR):c.1116+23T>G
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) rs139002629
NM_000298.6(PKLR):c.307del (p.Arg103fs)
NM_000298.6(PKLR):c.957del (p.Gly319_Val320insTer)
NM_000298.6(PKLR):c.993C>A (p.Asp331Glu)
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100
NM_000308.4(CTSA):c.1035C>G (p.Tyr345Ter)
NM_000314.7(PTEN):c.528T>G (p.Tyr176Ter) rs1057522285
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.4(SLC4A1):c.1058dup (p.Pro354fs)
NM_000342.4(SLC4A1):c.1180del (p.Tyr393_Leu394insTer)
NM_000342.4(SLC4A1):c.1561C>T (p.Gln521Ter)
NM_000342.4(SLC4A1):c.1626+1G>T
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter) rs13306787
NM_000342.4(SLC4A1):c.2260C>T (p.Gln754Ter)
NM_000342.4(SLC4A1):c.2285G>T (p.Ser762Ile)
NM_000342.4(SLC4A1):c.2510C>T (p.Thr837Met)
NM_000368.4(TSC1):c.1141+1G>T rs397514819
NM_000377.2(WAS):c.244T>C (p.Ser82Pro) rs132630272
NM_000377.3(WAS):c.869T>C (p.Ile290Thr)
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs) rs387906257
NM_000382.3(ALDH3A2):c.941_942insTAAAAGTA (p.Pro315fs) rs1555534430
NM_000382.3(ALDH3A2):c.943delinsTGTTGGGG (p.Pro315fs) rs1555534434
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs) rs1057516672
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332
NM_000431.4(MVK):c.60T>A (p.His20Gln) rs104895335
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile)
NM_000455.4(STK11):c.582C>A (p.Asp194Glu) rs786202134
NM_000466.3(PEX1):c.2724dup (p.Glu909fs) rs1554369227
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1439G>A (p.Gly480Asp) rs397508208
NM_000492.3(CFTR):c.1543_1555del (p.Tyr515fs) rs1301983423
NM_000492.3(CFTR):c.1731C>T (p.Tyr577=) rs55928397
NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758
NM_000492.3(CFTR):c.743+1G>C rs397508791
NM_000492.4(CFTR):c.1367T>C rs193922500
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.4(CFTR):c.3259G>C (p.Ala1087Pro)
NM_000501.4(ELN):c.1150+1G>A rs727503030
NM_000504.4(F10):c.1247A>T (p.Gln416Leu)
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000527.4(LDLR):c.1586+5G>C rs781362878
NM_000527.4(LDLR):c.313+3A>C rs1064793799
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu) rs755667663
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.5(LDLR):c.2341G>T (p.Glu781Ter)
NM_000530.8(MPZ):c.130_137del (p.Ser44fs) rs1571820186
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) rs1060500909
NM_000546.5(TP53):c.116_117del (p.Ala39fs) rs1555526793
NM_000546.5(TP53):c.400_401insG (p.Phe134fs) rs1555526286
NM_000546.5(TP53):c.401T>G (p.Phe134Cys) rs780442292
NM_000546.5(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.5(TP53):c.469_476del (p.Val157fs) rs1555526137
NM_000546.5(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.5(TP53):c.831T>A (p.Cys277Ter) rs1057523347
NM_000546.5(TP53):c.970del (p.Asp324fs) rs1555524970
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.3610+1G>T
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg) rs45517369
NM_000552.5(VWF):c.4571T>G (p.Val1524Gly)
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000760.4(CSF3R):c.1537_1552del (p.Gly513fs)
NM_000760.4(CSF3R):c.1829A>T (p.Asn610Ile)
NM_001005273.2(CHD3):c.3603_3614del (p.Met1202_Thr1205del) rs1555612691
NM_001010867.4(IBA57):c.436C>T (p.Arg146Trp) rs73095427
NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs)
NM_001033855.3(DCLRE1C):c.1670_1671del (p.Thr557fs)
NM_001035.3(RYR2):c.39C>G (p.Phe13Leu)
NM_001040108.1(MLH3):c.3154del (p.Leu1052fs) rs745657036
NM_001040108.1(MLH3):c.3643+2T>C rs1555343301
NM_001040436.3(YARS2):c.201dup (p.Gly68fs) rs1555137047
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543
NM_001083961.2(WDR62):c.2396_2397del (p.Glu799fs)
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001114134.2(EPB42):c.293_300dup (p.Ser101fs)
NM_001114134.2(EPB42):c.619_628del (p.Gln207fs)
NM_001114753.3(ENG):c.1429-1G>A
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del)
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127713.1(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_001127713.1(ATL1):c.757G>A (p.Val253Ile) rs864622520
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237
NM_001134363.3(RBM20):c.2802del (p.Ile935fs)
NM_001134363.3(RBM20):c.460C>T (p.Gln154Ter)
NM_001134407.3(GRIN2A):c.1497+1G>T
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter)
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) rs587776989
NM_001145661.2(GATA2):c.1085G>A (p.Arg362Gln) rs867160952
NM_001145661.2(GATA2):c.1121G>A (p.Gly374Asp) rs1559985057
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter)
NM_001165963.4(SCN1A):c.4002+1G>T
NM_001165963.4(SCN1A):c.4300T>A (p.Trp1434Arg)
NM_001167617.2(MLH1):c.-134del rs63750028
NM_001167617.2(MLH1):c.1958_1959del (p.Lys653fs) rs267607901
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256
NM_001193466.2(KANSL1):c.1463dup (p.Glu489fs) rs1555753569
NM_001195553.2(DCX):c.809-1G>A rs587783589
NM_001199563.2(BVES):c.427A>T (p.Arg143Ter)
NM_001242.5(CD27):c.406_407del (p.Leu136fs)
NM_001242896.3(DEPDC5):c.218_219del (p.Val73fs)
NM_001258271.1(MLH1):c.1896+1290del rs863225381
NM_001258271.1(MLH1):c.1896+850_1896+863dup rs587778958
NM_001258281.1(MSH2):c.1104del (p.Val369fs) rs863225389
NM_001267550.2(TTN):c.53836dup (p.Ser17946fs)
NM_001267550.2(TTN):c.63526_63527del (p.Leu21176fs)
NM_001267550.2(TTN):c.67279del (p.Arg22427fs)
NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter) rs1131691944
NM_001276697.2(TP53):c.-30_-18del rs1064792930
NM_001278074.1(COL5A1):c.655-1G>C rs1554787526
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) rs1554219474
NM_001281463.1(SMC1A):c.-118G>A rs1556892359
NM_001281492.1(MSH6):c.2647_2651del (p.Lys883fs) rs587782712
NM_001281492.1(MSH6):c.2718_2719del (p.Phe907fs) rs1553414519
NM_001281492.1(MSH6):c.3590_3593dup (p.Leu1200fs) rs1553333738
NM_001281492.1(MSH6):c.778_780delinsAA (p.Asp260fs) rs863225398
NM_001281492.1(MSH6):c.962del (p.Phe321fs) rs869312769
NM_001303.4(COX10):c.688C>T (p.Gln230Ter)
NM_001304718.2(PTEN):c.-442del rs1554898088
NM_001304718.2(PTEN):c.-667_-666del rs587776671
NM_001320.6(CSNK2B):c.181G>T (p.Glu61Ter) rs1562050885
NM_001320.6(CSNK2B):c.2T>A (p.Met1Lys) rs1562045237
NM_001330260.2(SCN8A):c.615-155G>A
NM_001354624.1(MLH1):c.-36-5180del rs1553648225
NM_001354630.1(MLH1):c.1732-870dup rs863225380
NM_001354630.1(MLH1):c.1732-896_1732-883delinsT rs863225379
NM_001354689.3(RAF1):c.1931C>G (p.Ser644Cys) rs1057524239
NM_001355436.2(SPTB):c.1396dup (p.Ala466fs)
NM_001355436.2(SPTB):c.1932G>A (p.Trp644Ter)
NM_001355436.2(SPTB):c.3838del (p.Leu1280fs)
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) rs150471537
NM_001355436.2(SPTB):c.3936G>A (p.Trp1312Ter)
NM_001355436.2(SPTB):c.3980_3983delinsCCAGAGAACATGAA (p.Gly1327fs)
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter)
NM_001355436.2(SPTB):c.4474-1G>A
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter)
NM_001355436.2(SPTB):c.4973+5G>A rs1555367789
NM_001355436.2(SPTB):c.542T>A (p.Leu181Ter)
NM_001355436.2(SPTB):c.5692C>T (p.Gln1898Ter)
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val)
NM_001355436.2(SPTB):c.6070T>A (p.Trp2024Arg)
NM_001355436.2(SPTB):c.724G>T (p.Glu242Ter)
NM_001355436.2(SPTB):c.742dup (p.Ile248fs)
NM_001356.4(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001360016.2(G6PD):c.1186C>G (p.Pro396Ala)
NM_001360016.2(G6PD):c.611G>A (p.Gly204Asp)
NM_001370298.3(FGD4):c.658C>T (p.Gln220Ter)
NM_001371928.1(AHDC1):c.3168_3169del (p.Cys1056_Asp1057delinsTer) rs1553158517
NM_001374258.1(BRAF):c.1522T>C (p.Phe508Leu)
NM_001376013.1(EPB41):c.1744dup (p.Thr582fs)
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg)
NM_001904.4(CTNNB1):c.2076G>C (p.Glu692Asp) rs1559477241
NM_001953.5(TYMP):c.1301-2_1305del
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039
NM_001972.4(ELANE):c.597+3A>T
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) rs797044590
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002246.3(KCNK3):c.365T>C (p.Leu122Pro) rs1553387422
NM_002437.5(MPV17):c.135del (p.Glu45fs) rs777604559
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.3(POLG):c.1816dup (p.Thr606fs)
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.3104+2_3104+5del
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819
NM_003126.4(SPTA1):c.1406_1408del (p.His469del)
NM_003126.4(SPTA1):c.1833+1G>A rs1035389616
NM_003126.4(SPTA1):c.2038G>A (p.Gly680Arg)
NM_003126.4(SPTA1):c.2173C>T (p.Arg725Ter)
NM_003126.4(SPTA1):c.2386C>T (p.Gln796Ter)
NM_003126.4(SPTA1):c.2464+1G>A rs774632615
NM_003126.4(SPTA1):c.3026_3027delinsGA (p.Ser1009Ter)
NM_003126.4(SPTA1):c.390+1G>A
NM_003126.4(SPTA1):c.4579_4586del (p.Ser1527fs)
NM_003126.4(SPTA1):c.461TGC[3] (p.Leu155dup)
NM_003126.4(SPTA1):c.4767G>A (p.Trp1589Ter)
NM_003126.4(SPTA1):c.6236_6264del (p.Arg2079fs)
NM_003126.4(SPTA1):c.6414del (p.Ile2138fs)
NM_003126.4(SPTA1):c.660T>A (p.Tyr220Ter)
NM_003126.4(SPTA1):c.7181_7182del (p.Gln2394fs)
NM_003126.4(SPTA1):c.957+1G>A
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)
NM_004006.2(DMD):c.1075G>T (p.Glu359Ter) rs1556876346
NM_004085.4(TIMM8A):c.100C>T (p.Gln34Ter) rs863224234
NM_004360.5(CDH1):c.2100del (p.Val701fs) rs1555517136
NM_004415.4(DSP):c.5497G>T (p.Glu1833Ter)
NM_004437.4(EPB41):c.1A>G (p.Met1Val) rs1557948192
NM_004453.4(ETFDH):c.405+3A>G
NM_004563.4(PCK2):c.451_452dup (p.Met152fs) rs1555341463
NM_004563.4(PCK2):c.457del (p.Gln153fs) rs1555341473
NM_004563.4(PCK2):c.459_460insA (p.Gly154fs) rs1555341483
NM_004820.5(CYP7B1):c.1150del (p.Asp384fs)
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005262.3(GFER):c.217del (p.Ala73fs) rs1555486560
NM_005359.5(SMAD4):c.1351_1375del25 (p.Ala451Leufs) rs587780124
NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter) rs863224400
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg) rs122453115
NM_005654.6(NR2F1):c.1115T>C (p.Leu372Pro) rs1554075105
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His) rs1060500766
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter) rs1553948361
NM_006009.4(TUBA1A):c.321C>G (p.His107Gln) rs1565627513
NM_006096.4(NDRG1):c.944-1G>T rs1588216753
NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe) rs763922486
NM_006214.4(PHYH):c.135-2A>G rs201578674
NM_006329.4(FBLN5):c.850C>T (p.Arg284Ter)
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006565.4(CTCF):c.848G>A (p.Arg283His) rs1567609067
NM_006736.6(DNAJB2):c.230-2A>G rs369661561
NM_006772.3(SYNGAP1):c.1652T>C (p.Leu551Pro) rs1554121453
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007294.4(BRCA1):c.4814_4815insTATT (p.Leu1605fs)
NM_007327.4(GRIN1):c.2021A>T (p.Asn674Ile)
NM_012452.2(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423
NM_014141.6(CNTNAP2):c.3283C>T (p.Arg1095Ter)
NM_014727.2(KMT2B):c.5335C>T (p.Arg1779Ter) rs1568379151
NM_014845.6(FIG4):c.2547-1G>A
NM_014946.3(SPAST):c.1775T>A (p.Ile592Lys) rs1553321237
NM_014946.4(SPAST):c.1088_1089insAT (p.Leu363_Arg364insTer)
NM_014946.4(SPAST):c.1196C>T rs1553317025
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947
NM_015346.4(ZFYVE26):c.1343_1344del (p.Leu448fs)
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
NM_017837.3(PIGV):c.55C>T (p.Arg19Cys) rs759988046
NM_017890.4(VPS13B):c.4846C>T (p.Arg1616Ter) rs752429062
NM_018105.3(THAP1):c.62C>T (p.Ser21Phe) rs1064797344
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter) rs138884194
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271
NM_019616.4(F7):c.854G>A (p.Arg285His)
NM_020451.3(SELENON):c.184-2A>G
NM_020549.4(CHAT):c.1254del (p.Asn419fs) rs1272947184
NM_020631.5(PLEKHG5):c.440-2A>G rs144750655
NM_020631.6(PLEKHG5):c.1738G>T (p.Glu580Ter)
NM_021005.4(NR2F2):c.83_84dup (p.Val29fs) rs1555446983
NM_021830.5(TWNK):c.68del (p.Gly23fs)
NM_021870.3(FGG):c.1086G>A (p.Met362Ile)
NM_021964.3(ZNF148):c.2334_2335del (p.Arg778fs) rs1553802038
NM_024079.5(ALG8):c.478+1G>A rs139832787
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930
NM_024577.4(SH3TC2):c.2403_2404delinsAA (p.Cys801_Leu802delinsTer)
NM_025099.6(CTC1):c.2996dup (p.Pro999_Glu1000insTer) rs1567599993
NM_025152.3(NUBPL):c.815-27T>C rs118161496
NM_030632.3(ASXL3):c.4072_4085del (p.Val1358fs) rs1555744039
NM_031229.4(RBCK1):c.1258_1259dup (p.Arg421fs)
NM_032581.4(FAM126A):c.125dup (p.Tyr42Ter) rs780540757
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter)
NM_053013.4(ENO3):c.157del (p.Asp53fs)
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp) rs80338696
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.4(PKHD1):c.8461del (p.Glu2821fs)
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_139025.4(ADAMTS13):c.559G>C (p.Asp187His) rs148312697
NM_139027.6(ADAMTS13):c.2068G>A (p.Ala690Thr)
NM_139241.3(FGD4):c.991del (p.Gln331fs) rs1393673267
NM_145239.3(PRRT2):c.963_978delinsTA (p.Val322fs)
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs) rs748387885
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu) rs58789393
NM_172056.2(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_172351.3(CD46):c.153del (p.Lys51fs)
NM_172351.3(CD46):c.469T>C (p.Cys157Arg)
NM_172351.3(CD46):c.97G>C (p.Asp33His)
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)
NM_181798.1(KCNQ1):c.1316C>T (p.Ser439Phe) rs199472804
NM_181798.1(KCNQ1):c.1321G>A (p.Gly441Arg) rs199472807
NM_181798.1(KCNQ1):c.569A>G (p.Asp190Gly) rs199472750
NM_181798.1(KCNQ1):c.577C>T (p.Pro193Ser) rs199472753
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458
NM_182961.4(SYNE1):c.1418dup (p.Asn473fs)
NM_198056.2(SCN5A):c.3908G>A (p.Arg1303Gln) rs977717858
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) rs1060503011
NM_198253.3(TERT):c.2639C>T (p.Ala880Val)
NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser) rs121908465
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369
Single allele

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