ClinVar Miner

List of variants studied for congenital anomaly of the great arteries

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 471
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HGVS dbSNP
46;XX;ins(2;9)(q24.3;p22.1p24.3)dn
46;XX;ins(5;6)(p13;p24p25)dn
46;XX;inv(7)(q21.2q34)
46;XX;t(19;21)(q13.3;q22.3)dn
46;XY;inv(6)(p22q13)dn
46;XY;t(1;5)(p35.3;q31.3)dn
46;XY;t(2;14)(p22;q24.3)dn
46;XY;t(9;11)(q34;p11.2)dn
ELN, 1-BP DEL, 1821C
ELN, 1-BP INS, FS615TER
ELN, 100-KB DEL
ELN, 30-KB DEL
ELN, ARG610GLN AND 24-BP DUP, NT1034
ELN, IVS15AS, A-G, -2
GRCh37/hg19 13q22.1(chr13:74152544-74283131)
GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)
GRCh37/hg19 16p13.11-12.3(chr16:16633361-16688008)
GRCh37/hg19 19p12(chr19:20834979-20987550)
GRCh37/hg19 19p13.2(chr19:8213468-8227432)
GRCh37/hg19 1p36.21(chr1:13801823-14012604)
GRCh37/hg19 1q42.13(chr1:228297613-228703236)
GRCh37/hg19 22q11.21(chr22:18844632-19008108)
GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065)
NC_000007.13:g.(?_73442119)_(73484237_?)del
NC_000007.13:g.(?_73442498)_(73483050_?)del
NC_000007.13:g.(?_73449674)_(73483050_?)del
NC_000007.13:g.(?_73482987)_(73484237_?)del
NC_000012.11:g.(?_114793317)_(114841723_?)del
NC_000012.11:g.(?_114839611)_(114839745_?)del
NC_000012.11:g.(?_114839621)_(114839735_?)del
NC_012920.1:m.8420_8421insATA rs1569484208
NC_012920.1:m.8751_8752insAAA rs1569484234
NC_012920.1:m.8950G>A rs1556423574
NM_000192.3(TBX5):c.1064G>A (p.Arg355His) rs145784562
NM_000192.3(TBX5):c.1084C>G (p.Gln362Glu) rs765204502
NM_000192.3(TBX5):c.1104C>G (p.Tyr368Ter) rs1565923835
NM_000192.3(TBX5):c.1115C>T (p.Ser372Leu) rs143068551
NM_000192.3(TBX5):c.1162G>A (p.Glu388Lys) rs139371720
NM_000192.3(TBX5):c.1208G>A (p.Ser403Asn)
NM_000192.3(TBX5):c.1242C>A (p.Thr414=)
NM_000192.3(TBX5):c.1281C>T (p.Ser427=) rs6489957
NM_000192.3(TBX5):c.1289T>C (p.Phe430Ser) rs1396124456
NM_000192.3(TBX5):c.1545C>T (p.Ser515=) rs186780790
NM_000192.3(TBX5):c.163_172del (p.Lys55fs)
NM_000192.3(TBX5):c.278dup (p.Leu94fs) rs1555226420
NM_000192.3(TBX5):c.309C>T (p.Leu103=) rs28730763
NM_000192.3(TBX5):c.322C>T (p.Pro108Ser) rs376621016
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000192.3(TBX5):c.362+2T>C
NM_000192.3(TBX5):c.363-2A>G rs1565941072
NM_000192.3(TBX5):c.390del (p.Met131fs) rs1565941046
NM_000192.3(TBX5):c.432dup (p.Gly145fs) rs1555226322
NM_000192.3(TBX5):c.443G>A (p.Trp148Ter) rs1060503154
NM_000192.3(TBX5):c.456del (p.Val153fs) rs1057520136
NM_000192.3(TBX5):c.510+5G>A rs1555226301
NM_000192.3(TBX5):c.54C>A (p.Asp18Glu) rs1479545982
NM_000192.3(TBX5):c.557T>G (p.Val186Gly) rs1555226019
NM_000192.3(TBX5):c.579A>G (p.Gly193=) rs967802452
NM_000192.3(TBX5):c.587C>A (p.Ser196Ter) rs886041247
NM_000192.3(TBX5):c.595dup (p.Thr199fs) rs1555226005
NM_000192.3(TBX5):c.629_632dup (p.Ile212fs) rs1555225989
NM_000192.3(TBX5):c.668C>T (p.Thr223Met) rs1555225344
NM_000192.3(TBX5):c.709C>T (p.Arg237Trp) rs104894382
NM_000192.3(TBX5):c.710G>A (p.Arg237Gln) rs104894378
NM_000192.3(TBX5):c.755G>T (p.Ser252Ile) rs863223776
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000192.3(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_000192.3(TBX5):c.868C>T (p.Gln290Ter) rs1565927747
NM_000192.3(TBX5):c.902C>G (p.Ser301Cys)
NM_000192.3(TBX5):c.926_927del (p.Asn309fs)
NM_000192.3(TBX5):c.958del (p.Ile320fs) rs878853750
NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr)
NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs)
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter)
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000267.3(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_000267.3(NF1):c.1260+5G>A
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.5164G>C (p.Ala1722Pro) rs878853900
NM_000501.2(ELN):c.(?_-60)_(*57_?)del
NM_000501.3(ELN):c.1153del (p.Ala385Profs) rs727503031
NM_000501.4(ELN):c.*1062dup rs574934142
NM_000501.4(ELN):c.*1145dup rs886062436
NM_000501.4(ELN):c.*1194A>G rs10233395
NM_000501.4(ELN):c.*1195C>T rs115872030
NM_000501.4(ELN):c.*172G>A rs56120764
NM_000501.4(ELN):c.*238C>T rs546341976
NM_000501.4(ELN):c.*251C>T rs886062430
NM_000501.4(ELN):c.*383T>G rs184490734
NM_000501.4(ELN):c.*429C>T rs62476387
NM_000501.4(ELN):c.*458C>T rs886062431
NM_000501.4(ELN):c.*489G>T rs886062432
NM_000501.4(ELN):c.*501_*502insA rs34208922
NM_000501.4(ELN):c.*548G>A rs117454480
NM_000501.4(ELN):c.*562A>C rs539096901
NM_000501.4(ELN):c.*570G>A rs565400803
NM_000501.4(ELN):c.*629T>C rs776424755
NM_000501.4(ELN):c.*636G>A rs533779578
NM_000501.4(ELN):c.*659G>C rs8326
NM_000501.4(ELN):c.*663C>T rs886062433
NM_000501.4(ELN):c.*794C>T rs185988110
NM_000501.4(ELN):c.*95C>T rs181078432
NM_000501.4(ELN):c.*997G>T rs886062434
NM_000501.4(ELN):c.1040del (p.Pro347fs) rs1563826213
NM_000501.4(ELN):c.1089G>A (p.Ala363=) rs782204123
NM_000501.4(ELN):c.1096+12TG[16] rs10579871
NM_000501.4(ELN):c.1096+12TG[18] rs10579871
NM_000501.4(ELN):c.1096+12TG[20] rs10579871
NM_000501.4(ELN):c.1096+12TG[21] rs10579871
NM_000501.4(ELN):c.1096+12TG[22] rs10579871
NM_000501.4(ELN):c.1097-1G>A rs727503029
NM_000501.4(ELN):c.1113dup (p.Ala372fs) rs730880355
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr) rs973649598
NM_000501.4(ELN):c.1150+1G>A rs727503030
NM_000501.4(ELN):c.1170A>G (p.Gly390=) rs1060504936
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1208del (p.Gly403fs) rs727504433
NM_000501.4(ELN):c.1227del (p.Gly410fs) rs1563836689
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg) rs375116795
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1264G>C (p.Gly422Arg)
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.1271G>A (p.Gly424Glu) rs782725817
NM_000501.4(ELN):c.1281C>T (p.Pro427=) rs376496267
NM_000501.4(ELN):c.1317C>T (p.Pro439=) rs201861098
NM_000501.4(ELN):c.131del (p.Pro44fs) rs727503023
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.4(ELN):c.133+6G>A rs1216357938
NM_000501.4(ELN):c.1338C>T (p.Ala446=) rs146576615
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr) rs139335797
NM_000501.4(ELN):c.134-4dup rs878854451
NM_000501.4(ELN):c.1358-185G>A rs782737850
NM_000501.4(ELN):c.1358-192C>T rs185060213
NM_000501.4(ELN):c.1358-199G>A
NM_000501.4(ELN):c.1358-209C>T
NM_000501.4(ELN):c.1358-234G>C
NM_000501.4(ELN):c.1358-253G>A rs370619098
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg) rs34945509
NM_000501.4(ELN):c.1431C>T (p.Val477=) rs782141278
NM_000501.4(ELN):c.1470T>C (p.Gly490=) rs576324025
NM_000501.4(ELN):c.1482del (p.Val495fs)
NM_000501.4(ELN):c.1507G>A (p.Val503Met) rs41523046
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584
NM_000501.4(ELN):c.159A>T (p.Gly53=) rs200810494
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.1622-13C>T rs41362346
NM_000501.4(ELN):c.163+13A>G rs782388951
NM_000501.4(ELN):c.163+2T>C
NM_000501.4(ELN):c.164C>T (p.Ala55Val)
NM_000501.4(ELN):c.1671C>T (p.Val557=) rs563533415
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099
NM_000501.4(ELN):c.1702G>A (p.Val568Ile) rs1554683612
NM_000501.4(ELN):c.171del (p.Pro58fs) rs1554666513
NM_000501.4(ELN):c.1733del (p.Pro578fs) rs727503782
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000501.4(ELN):c.1744del (p.Ala582fs) rs727503783
NM_000501.4(ELN):c.1747+82C>A rs186744935
NM_000501.4(ELN):c.1767C>T (p.Ala589=) rs117816525
NM_000501.4(ELN):c.1781A>T (p.Lys594Ile) rs782679448
NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter) rs727503033
NM_000501.4(ELN):c.1821G>C (p.Gly607=) rs144835575
NM_000501.4(ELN):c.1825C>T (p.Leu609Phe) rs200133966
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210
NM_000501.4(ELN):c.1858+5G>C rs1554686162
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr) rs150404125
NM_000501.4(ELN):c.18G>A (p.Ala6=)
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr) rs536177240
NM_000501.4(ELN):c.1918+1G>A rs727503035
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632
NM_000501.4(ELN):c.1946G>C (p.Gly649Ala) rs200041224
NM_000501.4(ELN):c.1956_1970del (p.648_652GGLGV[1]) rs782015142
NM_000501.4(ELN):c.1993+4A>G rs781872334
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) rs369804770
NM_000501.4(ELN):c.2086+5G>C rs111866046
NM_000501.4(ELN):c.2086+8del rs782078342
NM_000501.4(ELN):c.2109C>T (p.Phe703=) rs149755814
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445
NM_000501.4(ELN):c.2132-6G>A rs781831349
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805
NM_000501.4(ELN):c.259T>C (p.Phe87Leu) rs140411170
NM_000501.4(ELN):c.295_296del (p.Ala99fs) rs1554669297
NM_000501.4(ELN):c.2T>C (p.Met1Thr) rs863223518
NM_000501.4(ELN):c.326G>A (p.Gly109Asp) rs145519139
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000501.4(ELN):c.34G>A (p.Gly12Arg) rs149127344
NM_000501.4(ELN):c.366A>G (p.Gly122=) rs61734587
NM_000501.4(ELN):c.383del (p.Val128fs) rs1554669800
NM_000501.4(ELN):c.417del (p.Val141fs) rs878854452
NM_000501.4(ELN):c.427+8C>T rs55868272
NM_000501.4(ELN):c.42C>T (p.Leu14=) rs1554660052
NM_000501.4(ELN):c.435del (p.Leu146fs) rs727503024
NM_000501.4(ELN):c.43dup (p.Leu15fs) rs727503022
NM_000501.4(ELN):c.450C>G (p.Tyr150Ter) rs137854454
NM_000501.4(ELN):c.470-10C>G rs200663056
NM_000501.4(ELN):c.470-37_470del rs1563793627
NM_000501.4(ELN):c.493G>T (p.Val165Leu) rs61734581
NM_000501.4(ELN):c.526A>T (p.Lys176Ter) rs137854455
NM_000501.4(ELN):c.528G>A (p.Lys176=) rs782412839
NM_000501.4(ELN):c.608del (p.Pro203fs) rs727504581
NM_000501.4(ELN):c.634A>T (p.Lys212Ter) rs1554672587
NM_000501.4(ELN):c.643+1_643+2delinsAG rs1554672602
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726
NM_000501.4(ELN):c.683A>G (p.Tyr228Cys)
NM_000501.4(ELN):c.686-1G>A
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter) rs1400530335
NM_000501.4(ELN):c.741del (p.Thr248fs) rs727503026
NM_000501.4(ELN):c.767C>T (p.Ala256Val)
NM_000501.4(ELN):c.800-2A>G rs727503027
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000501.4(ELN):c.861G>A (p.Gly287=) rs368610108
NM_000501.4(ELN):c.862dup (p.Ala288fs) rs727503028
NM_000501.4(ELN):c.886G>A (p.Ala296Thr) rs782335529
NM_000501.4(ELN):c.889+2T>C rs727504419
NM_000501.4(ELN):c.890-2A>G rs727504434
NM_000501.4(ELN):c.892G>A (p.Val298Ile) rs41526244
NM_000501.4(ELN):c.913G>A (p.Ala305Thr) rs1060503513
NM_000501.4(ELN):c.921A>G (p.Ala307=) rs6979788
NM_000501.4(ELN):c.924A>T (p.Ala308=) rs539451717
NM_000501.4(ELN):c.930C>T (p.Ala310=) rs147367888
NM_000501.4(ELN):c.931G>A (p.Ala311Thr) rs41376344
NM_000501.4(ELN):c.944A>G (p.Lys315Arg) rs1554676454
NM_000501.4(ELN):c.993G>A (p.Pro331=) rs371757750
NM_000540.2(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829
NM_001018005.2(TPM1):c.388A>G (p.Ile130Val) rs1114167355
NM_001077653.2(TBX20):c.117C>G (p.Ile39Met) rs1562569196
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter) rs766692577
NM_001077653.2(TBX20):c.527A>C (p.Asp176Ala) rs201782046
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu) rs760169368
NM_001136239.4(PRDM6):c.1385A>G (p.Gln462Arg) rs879253872
NM_001136239.4(PRDM6):c.1646G>A (p.Arg549Gln) rs879255278
NM_001136239.4(PRDM6):c.788G>C (p.Cys263Ser) rs879255279
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn)
NM_001270974.2(HYDIN):c.10816G>T (p.Gly3606Ter) rs1567744830
NM_001270974.2(HYDIN):c.6631G>A (p.Asp2211Asn)
NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_001278918.1(ELN):c.-38C>T rs41410045
NM_001278918.1(ELN):c.-70G>C rs537200597
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) rs1057518422
NM_001942.4(DSG1):c.604G>T (p.Glu202Ter) rs1057518788
NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) rs56208331
NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met) rs552818350
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro) rs1555554139
NM_002834.4(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_003221.3(TFAP2B):c.*4228G>T rs67092917
NM_003221.3(TFAP2B):c.-106A>T rs749242065
NM_003221.3(TFAP2B):c.-147C>T rs190729585
NM_003221.3(TFAP2B):c.-34G>A rs2272903
NM_003221.3(TFAP2B):c.-83G>A rs886061563
NM_003221.4(TFAP2B):c.*10A>T rs2857513
NM_003221.4(TFAP2B):c.*1199A>G rs886061578
NM_003221.4(TFAP2B):c.*1223A>G rs886061579
NM_003221.4(TFAP2B):c.*1248G>T rs537110904
NM_003221.4(TFAP2B):c.*1348G>A rs116006044
NM_003221.4(TFAP2B):c.*135_*136del rs140657288
NM_003221.4(TFAP2B):c.*136T>A rs2982621
NM_003221.4(TFAP2B):c.*136T>G rs2982621
NM_003221.4(TFAP2B):c.*1380G>C rs573299110
NM_003221.4(TFAP2B):c.*1415G>C rs149779376
NM_003221.4(TFAP2B):c.*1427del rs886061580
NM_003221.4(TFAP2B):c.*15_*17AAG[1] rs140328017
NM_003221.4(TFAP2B):c.*1644del rs886061581
NM_003221.4(TFAP2B):c.*1678T>C rs551048493
NM_003221.4(TFAP2B):c.*1742T>C rs886061582
NM_003221.4(TFAP2B):c.*1765T>C rs886061583
NM_003221.4(TFAP2B):c.*178C>T rs2857514
NM_003221.4(TFAP2B):c.*1790A>G rs9296643
NM_003221.4(TFAP2B):c.*1801G>A rs2817419
NM_003221.4(TFAP2B):c.*1879T>C rs55653665
NM_003221.4(TFAP2B):c.*1925G>T rs73427175
NM_003221.4(TFAP2B):c.*1938dup rs568007912
NM_003221.4(TFAP2B):c.*1950C>G rs61236902
NM_003221.4(TFAP2B):c.*1981T>A rs148498816
NM_003221.4(TFAP2B):c.*2003A>G rs886061585
NM_003221.4(TFAP2B):c.*2200C>T rs886061586
NM_003221.4(TFAP2B):c.*2218T>A rs545250166
NM_003221.4(TFAP2B):c.*2223G>A rs145454089
NM_003221.4(TFAP2B):c.*2227T>C rs2817420
NM_003221.4(TFAP2B):c.*2446C>G rs187079439
NM_003221.4(TFAP2B):c.*2497C>G rs886061587
NM_003221.4(TFAP2B):c.*2499G>C rs560455179
NM_003221.4(TFAP2B):c.*2506C>T rs116177339
NM_003221.4(TFAP2B):c.*2624T>C rs62405437
NM_003221.4(TFAP2B):c.*2778T>C rs886061588
NM_003221.4(TFAP2B):c.*2797del rs398048525
NM_003221.4(TFAP2B):c.*3074C>T rs147683287
NM_003221.4(TFAP2B):c.*3078C>G rs886061589
NM_003221.4(TFAP2B):c.*3079C>T rs113794910
NM_003221.4(TFAP2B):c.*3096A>G rs886061590
NM_003221.4(TFAP2B):c.*334A>G rs78688767
NM_003221.4(TFAP2B):c.*3397C>T rs144819786
NM_003221.4(TFAP2B):c.*3522C>A rs13195969
NM_003221.4(TFAP2B):c.*3578A>G rs73737658
NM_003221.4(TFAP2B):c.*369C>T rs886061571
NM_003221.4(TFAP2B):c.*3716A>G rs140596624
NM_003221.4(TFAP2B):c.*3725C>A rs770622965
NM_003221.4(TFAP2B):c.*3772C>A rs66462826
NM_003221.4(TFAP2B):c.*3955G>C rs12374644
NM_003221.4(TFAP2B):c.*3995T>C rs201889632
NM_003221.4(TFAP2B):c.*4081A>T rs113582178
NM_003221.4(TFAP2B):c.*4111A>T rs115188421
NM_003221.4(TFAP2B):c.*4124T>C rs7769978
NM_003221.4(TFAP2B):c.*4165G>T rs534021085
NM_003221.4(TFAP2B):c.*4209T>A rs62405438
NM_003221.4(TFAP2B):c.*4213_*4214GT[1] rs373428030
NM_003221.4(TFAP2B):c.*477C>T rs762515397
NM_003221.4(TFAP2B):c.*60T>A rs886061569
NM_003221.4(TFAP2B):c.*631A>G rs113608318
NM_003221.4(TFAP2B):c.*822A>T rs567202499
NM_003221.4(TFAP2B):c.*910_*911del rs35732696
NM_003221.4(TFAP2B):c.*910_*911insC rs1554165384
NM_003221.4(TFAP2B):c.*911_*915del rs770818655
NM_003221.4(TFAP2B):c.*911del rs35732696
NM_003221.4(TFAP2B):c.*912_*913CA[5] rs35649205
NM_003221.4(TFAP2B):c.*912_*913CA[6] rs35649205
NM_003221.4(TFAP2B):c.*912_*913CA[8] rs35649205
NM_003221.4(TFAP2B):c.*912_*916del rs886061577
NM_003221.4(TFAP2B):c.*927T>C rs538834828
NM_003221.4(TFAP2B):c.1006G>A (p.Val336Ile) rs139339332
NM_003221.4(TFAP2B):c.1131G>A (p.Pro377=) rs140849621
NM_003221.4(TFAP2B):c.1159C>T (p.Leu387=) rs112599056
NM_003221.4(TFAP2B):c.1235C>G (p.Ala412Gly) rs886061566
NM_003221.4(TFAP2B):c.1267G>C (p.Glu423Gln) rs886061567
NM_003221.4(TFAP2B):c.1304A>C (p.Asn435Thr) rs115226995
NM_003221.4(TFAP2B):c.218C>G (p.Pro73Arg) rs80338910
NM_003221.4(TFAP2B):c.252C>T (p.Asp84=) rs75279409
NM_003221.4(TFAP2B):c.360T>C (p.Ser120=) rs886061564
NM_003221.4(TFAP2B):c.406G>C (p.Asp136His) rs139904414
NM_003221.4(TFAP2B):c.435_438CCGG[1] (p.Pro147fs) rs879253871
NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu) rs13216733
NM_003221.4(TFAP2B):c.48T>G (p.Leu16=) rs371608614
NM_003221.4(TFAP2B):c.522C>G (p.Pro174=) rs886061565
NM_003221.4(TFAP2B):c.540+14A>G rs552393576
NM_003221.4(TFAP2B):c.540+7ACAA[5] rs368226832
NM_003221.4(TFAP2B):c.540+7ACAA[7] rs368226832
NM_003221.4(TFAP2B):c.541-2A>T rs879253870
NM_003221.4(TFAP2B):c.601+5G>A rs80338911
NM_003221.4(TFAP2B):c.650del (p.Gly217fs) rs1561964103
NM_003221.4(TFAP2B):c.670G>A (p.Val224Ile) rs141129222
NM_003221.4(TFAP2B):c.706C>A (p.Arg236Ser) rs80338912
NM_003221.4(TFAP2B):c.706C>T (p.Arg236Cys) rs80338912
NM_003221.4(TFAP2B):c.772T>G (p.Ser258Ala) rs2817394
NM_003221.4(TFAP2B):c.822-1G>C rs80338916
NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp) rs80338914
NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln) rs80338915
NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys) rs80338917
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) rs1232197674
NM_003221.4(TFAP2B):c.997G>T (p.Ala333Ser) rs140210899
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004415.4(DSP):c.2528C>A (p.Ser843Ter) rs1057518920
NM_005257.5(GATA6):c.1532C>G (p.Ser511Cys)
NM_005343.4(HRAS):c.277A>G (p.Ile93Val) rs587782949
NM_005585.5(SMAD6):c.1000G>C (p.Val334Leu)
NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu) rs900988907
NM_005585.5(SMAD6):c.106G>A (p.Asp36Asn) rs773308777
NM_005585.5(SMAD6):c.1075G>C (p.Asp359His)
NM_005585.5(SMAD6):c.1168_1173dup (p.Gly390_Ile391dup)
NM_005585.5(SMAD6):c.1184A>G (p.Lys395Arg) rs149949971
NM_005585.5(SMAD6):c.1225C>T (p.Pro409Ser)
NM_005585.5(SMAD6):c.1244C>T (p.Pro415Leu) rs387907284
NM_005585.5(SMAD6):c.1255G>A (p.Ala419Thr)
NM_005585.5(SMAD6):c.1256C>T (p.Ala419Val)
NM_005585.5(SMAD6):c.1260C>T (p.Pro420=) rs371930288
NM_005585.5(SMAD6):c.1271C>T (p.Ala424Val)
NM_005585.5(SMAD6):c.1297G>A (p.Gly433Ser)
NM_005585.5(SMAD6):c.1451G>T (p.Cys484Phe) rs387907283
NM_005585.5(SMAD6):c.170_171delinsTT (p.Arg57Leu)
NM_005585.5(SMAD6):c.171C>G (p.Arg57=) rs753456441
NM_005585.5(SMAD6):c.277A>T (p.Met93Leu)
NM_005585.5(SMAD6):c.279G>A (p.Met93Ile)
NM_005585.5(SMAD6):c.292G>T (p.Ala98Ser)
NM_005585.5(SMAD6):c.318_320delinsAGG (p.Asp106_Val107delinsGluGly) rs1060500751
NM_005585.5(SMAD6):c.35G>A (p.Arg12Gln) rs946785791
NM_005585.5(SMAD6):c.399C>T (p.Asp133=) rs760472203
NM_005585.5(SMAD6):c.413C>T (p.Pro138Leu)
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005585.5(SMAD6):c.43C>G (p.Arg15Gly)
NM_005585.5(SMAD6):c.458_464CGGGCGG[1] (p.Gly156fs)
NM_005585.5(SMAD6):c.458_464CGGGCGG[3] (p.Ser158fs) rs958818801
NM_005585.5(SMAD6):c.482C>T (p.Ala161Val) rs748622672
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter)
NM_005585.5(SMAD6):c.594C>T (p.Arg198=) rs565225133
NM_005585.5(SMAD6):c.611G>C (p.Gly204Ala) rs768542939
NM_005585.5(SMAD6):c.683G>A (p.Arg228His)
NM_005585.5(SMAD6):c.691C>G (p.Arg231Gly) rs1395007983
NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro) rs1419095990
NM_005585.5(SMAD6):c.752_754CCG[5] (p.Ala254dup)
NM_005585.5(SMAD6):c.75C>T (p.Gly25=) rs755856670
NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu) rs1567092020
NM_005585.5(SMAD6):c.780C>T (p.Cys260=) rs754314545
NM_005585.5(SMAD6):c.794del (p.His265fs) rs1567092071
NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del) rs769605183
NM_005585.5(SMAD6):c.82G>A (p.Gly28Ser)
NM_005585.5(SMAD6):c.92_100del (p.Gly31_Gly33del) rs750149627
NM_005585.5(SMAD6):c.973G>A (p.Ala325Thr) rs199822239
NM_005585.5(SMAD6):c.998G>C (p.Ser333Thr) rs199531653
NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_014462.3(LSM1):c.231+4A>C rs775468919
NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys)
NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997
NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr) rs587782970
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn) rs200816814
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971
NM_017617.5(NOTCH1):c.2380del (p.Glu794fs) rs863224901
NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter) rs1057515422
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile) rs886039138
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) rs41309764
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)
NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter) rs1057515423
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) rs61751541
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) rs369915496
NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs) rs41309766
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met)
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) rs774808496
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) rs745901158
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) rs377294245
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser) rs1060502237
NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter) rs1057518661
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975
NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)
NM_019055.6(ROBO4):c.1233T>A (p.His411Gln) rs1565326476
NM_019055.6(ROBO4):c.1529A>T (p.Asp510Val) rs1565325937
NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs) rs755569942
NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter) rs201492213
NM_019055.6(ROBO4):c.1864G>C (p.Asp622His) rs138111911
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) rs201393279
NM_019055.6(ROBO4):c.2056+1G>T rs764038221
NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu) rs1565322176
NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr) rs138370967
NM_019055.6(ROBO4):c.695C>T (p.Thr232Met) rs150700978
NM_019055.6(ROBO4):c.740T>C (p.Val247Ala) rs779392207
NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser) rs755747435
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe) rs763521707
NM_032682.5(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680
NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys) rs145205240
NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr) rs730882205
NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) rs142594314
NOTCH1, PRO1797HIS

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