ClinVar Miner

List of variants reported by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 493
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000344.4(SMN1):c.5C>G (p.Ala2Gly) rs1554066397 0.00571
NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln) rs35051736 0.00377
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387 0.00108
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 0.00048
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280 0.00037
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser) rs74844886 0.00029
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_002473.6(MYH9):c.3246G>A (p.Glu1082=) rs147961725 0.00016
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_024876.4(COQ8B):c.1560G>A (p.Trp520Ter) rs369205319 0.00011
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys) rs63094662 0.00009
NM_000344.4(SMN1):c.77G>A (p.Gly26Asp) rs1170466474 0.00008
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_000344.4(SMN1):c.662C>T (p.Pro221Leu) rs1336155324 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_020435.4(GJC2):c.203A>G (p.Tyr68Cys) rs1031720654 0.00005
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424 0.00004
NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys) rs371703979 0.00004
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val) rs780761368 0.00004
NM_001110792.2(MECP2):c.868G>A (p.Ala290Thr) rs782086416 0.00003
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) rs759360026 0.00002
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter) rs114073621 0.00002
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007055.4(POLR3A):c.3243-2A>G rs1462460124 0.00002
NM_018082.6(POLR3B):c.1263+2T>C rs774526181 0.00002
NM_018082.6(POLR3B):c.2899A>C (p.Ser967Arg) rs200865021 0.00002
NM_020435.4(GJC2):c.17G>A (p.Trp6Ter) rs878853083 0.00002
NM_020435.4(GJC2):c.217C>A (p.Pro73Thr) rs1330596542 0.00002
NM_000344.4(SMN1):c.835-3C>T rs772466166 0.00001
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter) rs777947329 0.00001
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) rs267608492 0.00001
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr) rs1193634362 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.272A>G (p.Lys91Arg) rs869312744 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003661.4(APOL1):c.1104T>G (p.Ala368=) rs1428826948 0.00001
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn) rs771588131 0.00001
NM_005343.4(HRAS):c.266C>G (p.Ser89Cys) rs755322824 0.00001
NM_006031.6(PCNT):c.2728C>T (p.Gln910Ter) rs869312917 0.00001
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs) rs869312929 0.00001
NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr) rs373279555 0.00001
NM_007055.4(POLR3A):c.1301dup (p.Tyr434Ter) rs1376632879 0.00001
NM_007055.4(POLR3A):c.1369G>A (p.Gly457Arg) rs768880752 0.00001
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys) rs755165065 0.00001
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670 0.00001
NM_007055.4(POLR3A):c.3407G>A (p.Arg1136Gln) rs763270865 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_018082.6(POLR3B):c.1324C>T (p.Arg442Cys) rs1442212683 0.00001
NM_018082.6(POLR3B):c.1999G>A (p.Val667Met) rs756536922 0.00001
NM_020435.4(GJC2):c.127G>A (p.Gly43Ser) rs761544365 0.00001
NM_020435.4(GJC2):c.268C>T (p.Pro90Ser) rs74315312 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_206937.2(LIG4):c.1345A>C (p.Lys449Gln) rs758694012 0.00001
NC_000001.11:g.228149857A>G rs587777496
NC_000001.11:g.228149860A>G rs587776888
NC_000006.12:g.(?_10875891)_(10881865_?)del
NC_000013.11:g.(?_90698351)_(90699137_?)del
NC_000019.10:g.(?_11200038)_(11200291_?)del
NC_000023.10:g.(?_154379237)_(154381523_?)del
NM_000116.5(TAFAZZIN):c.109+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.109+5G>C rs2148185111
NM_000116.5(TAFAZZIN):c.110-2A>G rs1603376833
NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)
NM_000116.5(TAFAZZIN):c.149T>C (p.Leu50Pro)
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.161T>A (p.Ile54Asn)
NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)
NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs)
NM_000116.5(TAFAZZIN):c.211T>C (p.Ser71Pro)
NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu)
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)
NM_000116.5(TAFAZZIN):c.238+2T>G
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.245T>C (p.Leu82Pro)
NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly)
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.284+5G>A
NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter)
NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer)
NM_000116.5(TAFAZZIN):c.302A>T (p.Asp101Val)
NM_000116.5(TAFAZZIN):c.310T>G (p.Phe104Val)
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.329_334del (p.Ser110_His111del)
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.349A>G (p.Lys117Glu)
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) rs1603377945
NM_000116.5(TAFAZZIN):c.461-2A>G rs876661038
NM_000116.5(TAFAZZIN):c.481G>A (p.Gly161Arg)
NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter)
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter)
NM_000116.5(TAFAZZIN):c.533T>C (p.Phe178Ser)
NM_000116.5(TAFAZZIN):c.541+1G>T
NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs)
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
NM_000116.5(TAFAZZIN):c.583+5G>A
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter)
NM_000116.5(TAFAZZIN):c.626T>A (p.Ile209Asn)
NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro)
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs) rs1569552936
NM_000116.5(TAFAZZIN):c.699+1G>T
NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs)
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs)
NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter)
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000116.5(TAFAZZIN):c.778-2A>G rs876661112
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)
NM_000117.3(EMD):c.121_155del (p.Tyr41fs) rs1557182286
NM_000117.3(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.3(EMD):c.187+1G>T rs794729010
NM_000117.3(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.3(EMD):c.419T>A (p.Leu140Ter) rs1057524848
NM_000117.3(EMD):c.46_82+6del rs1557182198
NM_000117.3(EMD):c.512C>A (p.Ser171Ter) rs886044901
NM_000117.3(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.3(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.3(EMD):c.621del (p.Pro208fs) rs1557182670
NM_000117.3(EMD):c.640_644dup (p.Gln219fs) rs1557182676
NM_000117.3(EMD):c.674_678del (p.Leu225fs) rs1557182692
NM_000117.3(EMD):c.703_704insA (p.Phe235fs) rs1557182708
NM_000117.3(EMD):c.82+1G>T rs1557182214
NM_000213.5(ITGB4):c.1412A>G (p.Asn471Ser)
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000344.3(SMN1):c.274_284del11 rs1561499612
NM_000344.4(SMN1):c.*3+1G>A rs1290417835
NM_000344.4(SMN1):c.283G>C (p.Gly95Arg) rs104893927
NM_000344.4(SMN1):c.305G>A (p.Trp102Ter) rs77804083
NM_000344.4(SMN1):c.316G>A (p.Gly106Ser) rs1561499628
NM_000344.4(SMN1):c.332C>G (p.Ala111Gly) rs104893935
NM_000344.4(SMN1):c.399_402del (p.Glu134fs) rs77668214
NM_000344.4(SMN1):c.419A>T (p.Asp140Val) rs1554081968
NM_000344.4(SMN1):c.48_55dup (p.Val19fs) rs1561498701
NM_000344.4(SMN1):c.490C>A (p.Gln164Lys) rs1561499713
NM_000344.4(SMN1):c.510_511del (p.Ser170fs) rs1561499720
NM_000344.4(SMN1):c.570G>A (p.Trp190Ter) rs1561499737
NM_000344.4(SMN1):c.584del (p.Pro195fs) rs1561499748
NM_000344.4(SMN1):c.5C>T (p.Ala2Val) rs1554066397
NM_000344.4(SMN1):c.724-2A>G rs1561500842
NM_000344.4(SMN1):c.770_780dup (p.Gly261fs) rs1561500847
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.4(SMN1):c.796T>C (p.Ser266Pro) rs1561500885
NM_000344.4(SMN1):c.801G>A (p.Trp267Ter)
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000344.4(SMN1):c.818A>T (p.His273Leu) rs1554082114
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000344.4(SMN1):c.824G>A (p.Gly275Asp) rs1561500920
NM_000344.4(SMN1):c.835-2A>G rs141760116
NM_000344.4(SMN1):c.866G>A (p.Cys289Tyr) rs765273240
NM_000344.4(SMN1):c.873T>A (p.His291Gln) rs1561503207
NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter) rs1554081950
NM_000388.4(CASR):c.416T>C (p.Ile139Thr) rs1060502860
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) rs121909264
NM_000388.4(CASR):c.513C>A (p.Ser171Arg) rs764149433
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000441.2(SLC26A4):c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC (p.Phe385_Ile386delinsSerAlaThrSerSerGlnAspSerSerLeu)
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.633A>G (p.Ile211Met)
NM_000527.4(LDLR):c.(1705+1_1706-1)_(2140+1_2141-1)del
NM_000533.5(PLP1):c.103T>C (p.Cys35Arg)
NM_000533.5(PLP1):c.105T>A (p.Cys35Ter)
NM_000533.5(PLP1):c.110A>C (p.His37Pro)
NM_000533.5(PLP1):c.113_115del (p.Glu38del)
NM_000533.5(PLP1):c.119T>A (p.Leu40His)
NM_000533.5(PLP1):c.121A>C (p.Thr41Pro)
NM_000533.5(PLP1):c.125G>A (p.Gly42Asp)
NM_000533.5(PLP1):c.128C>T (p.Thr43Ile) rs132630289
NM_000533.5(PLP1):c.137T>C (p.Leu46Pro)
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) rs1060500909
NM_000533.5(PLP1):c.151T>G (p.Phe51Val)
NM_000533.5(PLP1):c.173A>G (p.Tyr58Cys) rs2074490307
NM_000533.5(PLP1):c.191+4A>G
NM_000533.5(PLP1):c.192-2A>C
NM_000533.5(PLP1):c.192-2A>G
NM_000533.5(PLP1):c.206A>T (p.Gln69Leu)
NM_000533.5(PLP1):c.212T>A (p.Val71Asp)
NM_000533.5(PLP1):c.221G>A (p.Gly74Glu)
NM_000533.5(PLP1):c.223A>C (p.Thr75Pro)
NM_000533.5(PLP1):c.226_231dup (p.Ser77_Phe78insAlaSer)
NM_000533.5(PLP1):c.230C>A (p.Ser77Tyr)
NM_000533.5(PLP1):c.232TTC[2] (p.Phe80del) rs2074497991
NM_000533.5(PLP1):c.242T>G (p.Leu81Arg)
NM_000533.5(PLP1):c.254T>G (p.Leu85Arg)
NM_000533.5(PLP1):c.260T>C (p.Leu87Pro)
NM_000533.5(PLP1):c.282del (p.Gly95fs)
NM_000533.5(PLP1):c.2T>A (p.Met1Lys)
NM_000533.5(PLP1):c.2T>G (p.Met1Arg) rs864622194
NM_000533.5(PLP1):c.347C>A (p.Thr116Lys)
NM_000533.5(PLP1):c.354_355del (p.Gly120fs) rs1556267123
NM_000533.5(PLP1):c.359del (p.Gly120fs)
NM_000533.5(PLP1):c.377C>T (p.Ser126Phe)
NM_000533.5(PLP1):c.378C>T (p.Ser126=)
NM_000533.5(PLP1):c.380_392del (p.Arg127fs)
NM_000533.5(PLP1):c.384C>T (p.Gly128=)
NM_000533.5(PLP1):c.385C>T (p.Gln129Ter)
NM_000533.5(PLP1):c.4+1del rs1602373055
NM_000533.5(PLP1):c.406_422del (p.Glu136fs)
NM_000533.5(PLP1):c.409C>G (p.Arg137Gly)
NM_000533.5(PLP1):c.409C>T (p.Arg137Trp) rs132630295
NM_000533.5(PLP1):c.412del (p.Val138fs)
NM_000533.5(PLP1):c.418C>T (p.His140Tyr) rs132630287
NM_000533.5(PLP1):c.430A>T (p.Lys144Ter)
NM_000533.5(PLP1):c.434G>A (p.Trp145Ter) rs132630292
NM_000533.5(PLP1):c.436C>T (p.Leu146=) rs2147764616
NM_000533.5(PLP1):c.441A>T (p.Gly147=) rs1602383021
NM_000533.5(PLP1):c.446C>T (p.Pro149Leu)
NM_000533.5(PLP1):c.44C>T (p.Pro15Leu) rs11543022
NM_000533.5(PLP1):c.453+164G>A rs1602383268
NM_000533.5(PLP1):c.453+28_453+46del
NM_000533.5(PLP1):c.453+2T>C rs1556267388
NM_000533.5(PLP1):c.453+4A>G rs1569427707
NM_000533.5(PLP1):c.453+7A>G
NM_000533.5(PLP1):c.453G>A (p.Lys151=) rs886044450
NM_000533.5(PLP1):c.453G>T (p.Lys151Asn)
NM_000533.5(PLP1):c.454-1G>A
NM_000533.5(PLP1):c.454-1G>T
NM_000533.5(PLP1):c.454-2A>G
NM_000533.5(PLP1):c.454-314T>A
NM_000533.5(PLP1):c.458del (p.Val153fs)
NM_000533.5(PLP1):c.476T>C (p.Leu159Pro)
NM_000533.5(PLP1):c.487T>C (p.Trp163Arg) rs132630279
NM_000533.5(PLP1):c.517C>T (p.Pro173Ser)
NM_000533.5(PLP1):c.51_54del (p.Ser18fs)
NM_000533.5(PLP1):c.554_564del (p.Gln185fs)
NM_000533.5(PLP1):c.560T>C (p.Ile187Thr) rs132630288
NM_000533.5(PLP1):c.56T>C (p.Leu19Pro)
NM_000533.5(PLP1):c.613del (p.Arg205fs)
NM_000533.5(PLP1):c.619T>A (p.Tyr207Asn)
NM_000533.5(PLP1):c.619T>C (p.Tyr207His)
NM_000533.5(PLP1):c.623-2A>C
NM_000533.5(PLP1):c.628C>T (p.Leu210Phe)
NM_000533.5(PLP1):c.634T>C (p.Trp212Arg) rs2147766937
NM_000533.5(PLP1):c.644del (p.Phe215fs)
NM_000533.5(PLP1):c.647C>T (p.Pro216Leu) rs2147766958
NM_000533.5(PLP1):c.655G>T (p.Val219Phe) rs132630281
NM_000533.5(PLP1):c.656T>G (p.Val219Gly)
NM_000533.5(PLP1):c.658T>C (p.Cys220Arg)
NM_000533.5(PLP1):c.676T>C (p.Ser226Pro)
NM_000533.5(PLP1):c.696+1G>A rs113897548
NM_000533.5(PLP1):c.697-2A>C
NM_000533.5(PLP1):c.697-3C>A
NM_000533.5(PLP1):c.697-54_711delinsTTTATT
NM_000533.5(PLP1):c.710T>C (p.Phe237Ser) rs132630291
NM_000533.5(PLP1):c.728C>A (p.Ala243Glu)
NM_000533.5(PLP1):c.728C>T (p.Ala243Val)
NM_000533.5(PLP1):c.730T>G (p.Phe244Val)
NM_000533.5(PLP1):c.736G>T (p.Gly246Trp)
NM_000533.5(PLP1):c.737G>C (p.Gly246Ala) rs398123467
NM_000533.5(PLP1):c.752T>C (p.Leu251Pro)
NM_000533.5(PLP1):c.758C>T (p.Ser253Phe)
NM_000533.5(PLP1):c.761T>C (p.Leu254Pro)
NM_000533.5(PLP1):c.762+3G>T rs1569428537
NM_000533.5(PLP1):c.762G>A (p.Leu254=)
NM_000533.5(PLP1):c.763-1G>T
NM_000533.5(PLP1):c.834A>G (p.Ter278Trp)
NM_000533.5(PLP1):c.834A>T (p.Ter278Cys)
NM_000533.5(PLP1):c.83G>A (p.Gly28Glu)
NM_000533.5(PLP1):c.92T>G (p.Leu31Arg)
NM_000533.5(PLP1):c.94T>C (p.Phe32Leu)
NM_000782.5(CYP24A1):c.364G>T (p.Glu122Ter)
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del) rs777676129
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_000782.5(CYP24A1):c.641-1G>A
NM_001079668.3(NKX2-1):c.1025del (p.Gly342fs)
NM_001079668.3(NKX2-1):c.1040del (p.Pro347fs)
NM_001079668.3(NKX2-1):c.1045dup (p.His349fs)
NM_001079668.3(NKX2-1):c.1092_1108del (p.Ser366fs)
NM_001079668.3(NKX2-1):c.1157_1163dup (p.Thr389fs)
NM_001079668.3(NKX2-1):c.1173C>T (p.Ser391=)
NM_001079668.3(NKX2-1):c.196del (p.Ala66fs)
NM_001079668.3(NKX2-1):c.216del (p.Arg72fs)
NM_001079668.3(NKX2-1):c.336_345del (p.Val113fs)
NM_001079668.3(NKX2-1):c.344del (p.Gly115fs) rs587776709
NM_001079668.3(NKX2-1):c.348C>A (p.Tyr116Ter)
NM_001079668.3(NKX2-1):c.348C>G (p.Tyr116Ter)
NM_001079668.3(NKX2-1):c.377_387del (p.Glu126fs)
NM_001079668.3(NKX2-1):c.423del (p.Gly142fs)
NM_001079668.3(NKX2-1):c.432C>A (p.Tyr144Ter) rs775015070
NM_001079668.3(NKX2-1):c.456_457delinsACGG (p.Phe152fs)
NM_001079668.3(NKX2-1):c.464-2A>G rs587776708
NM_001079668.3(NKX2-1):c.464-9C>A
NM_001079668.3(NKX2-1):c.474del (p.Phe158fs)
NM_001079668.3(NKX2-1):c.481_485del (p.Pro161fs)
NM_001079668.3(NKX2-1):c.552_556del (p.Pro185fs)
NM_001079668.3(NKX2-1):c.583del (p.Arg195fs)
NM_001079668.3(NKX2-1):c.605A>T (p.Gln202Leu)
NM_001079668.3(NKX2-1):c.611_614delinsT (p.Tyr204_Glu205delinsLeu)
NM_001079668.3(NKX2-1):c.612C>A (p.Tyr204Ter)
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter) rs137852693
NM_001079668.3(NKX2-1):c.617T>A (p.Leu206Gln) rs1555349221
NM_001079668.3(NKX2-1):c.622C>T (p.Arg208Ter)
NM_001079668.3(NKX2-1):c.626G>C (p.Arg209Pro)
NM_001079668.3(NKX2-1):c.647del (p.Leu216fs)
NM_001079668.3(NKX2-1):c.650C>A (p.Ser217Ter)
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter) rs1555349209
NM_001079668.3(NKX2-1):c.701A>T (p.Gln234Leu)
NM_001079668.3(NKX2-1):c.704T>C (p.Val235Ala)
NM_001079668.3(NKX2-1):c.711C>G (p.Ile237Met)
NM_001079668.3(NKX2-1):c.713G>T (p.Trp238Leu) rs28936672
NM_001079668.3(NKX2-1):c.724C>G (p.His242Asp)
NM_001079668.3(NKX2-1):c.728G>C (p.Arg243Pro)
NM_001079668.3(NKX2-1):c.822C>A (p.Cys274Ter)
NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg) rs1057519223
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu) rs1057519223
NM_001079668.3(NKX2-1):c.905del (p.Ala302fs)
NM_001079668.3(NKX2-1):c.997del (p.Ala333fs)
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001110792.2(MECP2):c.1060_1061insAG (p.Pro354fs) rs1060499620
NM_001110792.2(MECP2):c.1065del (p.Arg356fs) rs61751457
NM_001110792.2(MECP2):c.1125_1165del (p.Lys376fs) rs1064792898
NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del) rs1064792899
NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del) rs61752381
NM_001110792.2(MECP2):c.1184T>C (p.Leu395Pro) rs1060499622
NM_001110792.2(MECP2):c.1191_1244del (p.Leu398_Pro415del) rs1557135259
NM_001110792.2(MECP2):c.1192_1233del (p.Leu398_Pro411del) rs267608579
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs) rs1557134621
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del) rs61753008
NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs) rs267608333
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del) rs782746707
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) rs267608438
NM_001110792.2(MECP2):c.349A>C (p.Thr117Pro) rs1060499623
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.504C>A (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.714del (p.Gln239fs) rs1060499621
NM_001110792.2(MECP2):c.746dup (p.Gly250fs) rs61749743
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) rs267608520
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.801_1194del (p.Lys268fs) rs1557135734
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001378454.1(ALMS1):c.5719C>T (p.Gln1907Ter)
NM_001378454.1(ALMS1):c.790dup (p.Thr264fs) rs1307785790
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys) rs1555815121
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) rs869025339
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys) rs397507511
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_003661.4(APOL1):c.976A>G (p.Ile326Val) rs1569534160
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn) rs397507476
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro) rs869025340
NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu) rs397507480
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004752.4(GCM2):c.408C>A (p.Tyr136Ter) rs1554103179
NM_004752.4(GCM2):c.456+2dup rs759190203
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_005199.5(CHRNG):c.420G>A (p.Trp140Ter)
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005378.6(MYCN):c.1014C>A (p.Tyr338Ter) rs367962377
NM_005378.6(MYCN):c.1061dup (p.Ser355fs) rs1553370963
NM_005378.6(MYCN):c.1181G>T (p.Arg394Leu) rs104893648
NM_005378.6(MYCN):c.1211T>G (p.Leu404Arg)
NM_005378.6(MYCN):c.68_71dup (p.Gln25fs) rs1553370260
NM_005378.6(MYCN):c.902_903del (p.Val301fs) rs1553370918
NM_005378.6(MYCN):c.964C>T (p.Arg322Ter) rs759103701
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005676.5(RBM10):c.159del (p.Lys54fs) rs1556770954
NM_006031.6(PCNT):c.2812C>T (p.Gln938Ter)
NM_006031.6(PCNT):c.398del (p.Phe133fs) rs1131691484
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) rs587784308
NM_006031.6(PCNT):c.6316_6325del (p.Leu2106fs)
NM_006031.6(PCNT):c.6564_6565del (p.Met2188fs)
NM_006031.6(PCNT):c.8018dup (p.Leu2674fs)
NM_006087.4(TUBB4A):c.1052C>T (p.Thr351Met)
NM_006087.4(TUBB4A):c.1062C>G (p.Cys354Trp) rs748787734
NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr) rs886041020
NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His) rs886041021
NM_006087.4(TUBB4A):c.533C>G (p.Thr178Arg) rs587777468
NM_006087.4(TUBB4A):c.730G>A (p.Gly244Ser) rs886041007
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) rs483352809
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His) rs886039470
NM_006087.4(TUBB4A):c.874C>A (p.Gln292Lys) rs886041011
NM_006517.5(SLC16A2):c.394G>T (p.Glu132Ter)
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_007055.4(POLR3A):c.1160C>G (p.Ala387Gly) rs1307896663
NM_007055.4(POLR3A):c.1186G>T (p.Val396Leu) rs1428468560
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu) rs267608668
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.1935G>C (p.Leu645Phe) rs751735990
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) rs267608671
NM_007055.4(POLR3A):c.2821A>C (p.Ser941Arg) rs1259778579
NM_007055.4(POLR3A):c.346A>G (p.Met116Val)
NM_007055.4(POLR3A):c.3736ACC[3] (p.Thr1247_Ser1248insThr)
NM_007055.4(POLR3A):c.3826G>A (p.Val1276Met)
NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs) rs1378008503
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys) rs1569244190
NM_018082.6(POLR3B):c.1346T>C (p.Leu449Pro) rs2137002042
NM_018082.6(POLR3B):c.2644A>C (p.Lys882Gln)
NM_018082.6(POLR3B):c.2740G>A (p.Glu914Lys)
NM_018082.6(POLR3B):c.847-2A>C
NM_020041.3(SLC2A9):c.684G>A (p.Glu228=)
NM_020041.3(SLC2A9):c.731T>A (p.Val244Asp)
NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs) rs1571908452
NM_020435.4(GJC2):c.196_201del (p.Val66_Cys67del)
NM_020435.4(GJC2):c.282C>G (p.Tyr94Ter)
NM_020435.4(GJC2):c.310del (p.Arg104fs) rs1064793505
NM_020435.4(GJC2):c.357dup (p.Pro120fs)
NM_020435.4(GJC2):c.371_392dup (p.His132fs) rs2124966280
NM_020435.4(GJC2):c.516_530dup (p.Gly173_Ala177dup) rs1159773438
NM_020435.4(GJC2):c.575del (p.Pro192fs) rs1064795865
NM_020435.4(GJC2):c.62C>T (p.Thr21Ile) rs2034705112
NM_020435.4(GJC2):c.693G>T (p.Gln231His)
NM_020435.4(GJC2):c.740G>C (p.Arg247Pro) rs1057523988
NM_020435.4(GJC2):c.746C>T (p.Pro249Leu)
NM_020435.4(GJC2):c.755A>G (p.His252Arg) rs2124966655
NM_020435.4(GJC2):c.790A>T (p.Lys264Ter)
NM_020435.4(GJC2):c.893_942del (p.Val298fs)
NM_020435.4(GJC2):c.907_923dup (p.Pro309fs)
NM_020435.4(GJC2):c.916_928dup (p.Ala310fs)
NM_020435.4(GJC2):c.970_971dup (p.Ala325fs) rs1085307499
NM_020435.4(GJC2):c.979_983dup (p.Cys329fs)
NM_020435.4(GJC2):c.99del (p.Phe34fs)
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.5(TRPV4):c.2399G>A (p.Gly800Asp) rs1555204615
NM_021625.5(TRPV4):c.2479C>G (p.Pro827Ala) rs1555204455
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_025205.5(MED28):c.19G>A (p.Gly7Ser)
NM_030667.3(PTPRO):c.882G>A (p.Thr294=)
NM_032581.4(HYCC1):c.145C>T (p.Gln49Ter)
NM_032581.4(HYCC1):c.169T>C (p.Cys57Arg)
NM_032581.4(HYCC1):c.414+1G>T rs72549406
NM_032581.4(HYCC1):c.722T>G (p.Leu241Ter) rs2128200575
NM_033360.4(KRAS):c.175G>T (p.Ala59Ser) rs121913528
NM_144585.4(SLC22A12):c.918C>T (p.Asn306=)
NM_152722.5(HEPACAM):c.265G>A (p.Gly89Ser) rs387907053
NM_152722.5(HEPACAM):c.382G>A (p.Asp128Asn) rs1947184803
NM_173689.7(CRB2):c.3373G>T (p.Gly1125Trp) rs543547663
NM_206937.2(LIG4):c.1277_1281del (p.Glu426fs) rs1555305016
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs) rs759838407

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