ClinVar Miner

List of variants reported by Centre of Medical Genetics, University of Antwerp

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Minimum conflict level:
ClinVar version:
Total variants: 414
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_020812.4(DOCK6):c.2104G>A (p.Gly702Ser) rs199838752 0.00102
NM_020812.4(DOCK6):c.2767G>A (p.Val923Ile) rs143194982 0.00011
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815 0.00010
NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys) rs781844419 0.00007
NM_001278689.2(EOGT):c.1335-1G>A rs185181819 0.00006
NM_001278689.2(EOGT):c.311+1G>T rs369583084 0.00005
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met) rs778258207 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys) rs112310699 0.00002
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter) rs113422242 0.00001
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg) rs1267721327 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu) rs751169871 0.00001
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280 0.00001
NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser) rs745650955 0.00001
NM_000138.5(FBN1):c.8051+5G>A rs767384075 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000218.3(KCNQ1):c.1449C>A (p.Asn483Lys) rs1849966701 0.00001
NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu) rs1369632373 0.00001
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu) rs760169368 0.00001
NM_001613.4(ACTA2):c.247G>A (p.Asp83Asn) rs794728023 0.00001
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn) rs757988142 0.00001
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616 0.00001
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys) rs1448345366 0.00001
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val) rs1064796983 0.00001
BGN, 21-KB DEL (SCV000266570)
GRCh37/hg19 13q22.1(chr13:74152544-74283131)
GRCh37/hg19 15q21.1(chr15:48703187-48714265)
GRCh37/hg19 15q21.1(chr15:48703187-48766574)
GRCh37/hg19 15q21.1(chr15:48703187-48937906)
GRCh37/hg19 15q21.1(chr15:48707733-48758055)
GRCh37/hg19 15q21.1(chr15:48720543-48730114)
GRCh37/hg19 15q21.1(chr15:48722868-48726910)
GRCh37/hg19 15q21.1(chr15:48725063-48784783)
GRCh37/hg19 15q21.1(chr15:48725063-48892431)
GRCh37/hg19 15q21.1(chr15:48736739-48736857)
GRCh37/hg19 15q21.1(chr15:48777571-48791235)
GRCh37/hg19 15q21.1(chr15:48782048-48782275)
GRCh37/hg19 15q21.1(chr15:48789463-48791235)
GRCh37/hg19 15q21.1(chr15:48902925-48937906)
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 1q42.13(chr1:228297613-228703236)
GRCh37/hg19 22q11.21(chr22:18844632-19008108)
GRCh37/hg19 3p24.1(chr3:30729876-30730003)
GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065)
NC_000005.10:g.(177090796_177094455)_(177346090_177352856)dup
NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del
NM_000138.4(FBN1):c.5470_5471delinsAT (p.Cys1824Ile) rs1555396205
NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr) rs1555400606
NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys) rs1555400595
NM_000138.5(FBN1):c.112A>T (p.Arg38Ter) rs1355716557
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1299dup (p.Tyr434fs) rs2141330877
NM_000138.5(FBN1):c.1391del (p.Arg464fs) rs1555400385
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr) rs1555400371
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr) rs587782944
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1575del (p.Thr526fs) rs1555400268
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.1622G>A (p.Cys541Tyr) rs1555400064
NM_000138.5(FBN1):c.164+1G>A rs794728213
NM_000138.5(FBN1):c.164+1del rs1555407399
NM_000138.5(FBN1):c.1709del (p.Cys570fs) rs193922182
NM_000138.5(FBN1):c.1720del (p.Asp574fs) rs2141321697
NM_000138.5(FBN1):c.1823del (p.Gly608fs) rs1555399949
NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg) rs1555399944
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.1849T>C (p.Cys617Arg) rs1060501017
NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly) rs1060501017
NM_000138.5(FBN1):c.1884C>G (p.Cys628Trp) rs150421653
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.5(FBN1):c.1936_1951dup (p.Val651fs) rs2141317141
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.1957_1958dup (p.Asp654fs) rs886041350
NM_000138.5(FBN1):c.1969_1970del (p.Met657fs) rs2141315944
NM_000138.5(FBN1):c.1982G>A (p.Cys661Tyr) rs1060501086
NM_000138.5(FBN1):c.2051G>A (p.Cys684Tyr) rs1555399763
NM_000138.5(FBN1):c.2054G>A (p.Cys685Tyr) rs1555399761
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.5(FBN1):c.2298_2301del (p.Ile766fs) rs1555399281
NM_000138.5(FBN1):c.2307T>G (p.Cys769Trp) rs2141305134
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr) rs193922188
NM_000138.5(FBN1):c.238T>G (p.Cys80Gly) rs111764111
NM_000138.5(FBN1):c.2413T>C (p.Cys805Arg) rs2043606316
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr) rs1555399210
NM_000138.5(FBN1):c.247+1G>A rs25404
NM_000138.5(FBN1):c.2557T>A (p.Cys853Ser) rs1555399165
NM_000138.5(FBN1):c.2560T>C (p.Trp854Arg) rs2043596204
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2657_2671del (p.Pro886_Cys890del) rs2141303486
NM_000138.5(FBN1):c.2659T>C (p.Cys887Arg) rs2141303537
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.5(FBN1):c.2682del (p.Ile895fs) rs193922194
NM_000138.5(FBN1):c.2696_2697dup (p.Tyr900fs) rs2141302411
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg) rs1060501021
NM_000138.5(FBN1):c.274G>A (p.Gly92Arg) rs2140734026
NM_000138.5(FBN1):c.2762G>A (p.Cys921Tyr) rs2141300460
NM_000138.5(FBN1):c.2776T>C (p.Cys926Arg) rs2141300401
NM_000138.5(FBN1):c.2777G>A (p.Cys926Tyr) rs1555398989
NM_000138.5(FBN1):c.2777G>C (p.Cys926Ser) rs1555398989
NM_000138.5(FBN1):c.2854G>C (p.Asp952His) rs2141300251
NM_000138.5(FBN1):c.2858del (p.Ile953fs) rs1555398836
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.2875_2908dup (p.Pro970fs) rs2141297440
NM_000138.5(FBN1):c.2903_2910dup (p.Ile971fs) rs2141297429
NM_000138.5(FBN1):c.2T>C (p.Met1Thr) rs886041536
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3083-1G>C rs2141295345
NM_000138.5(FBN1):c.3130T>G (p.Cys1044Gly) rs2141295251
NM_000138.5(FBN1):c.3132C>A (p.Cys1044Ter) rs1555398677
NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs) rs193922197
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr) rs1555398673
NM_000138.5(FBN1):c.3144del (p.Ile1048fs) rs1555398672
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp) rs1555398670
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser) rs1555398668
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr) rs397515786
NM_000138.5(FBN1):c.3228_3232dup (p.Pro1078fs) rs2141294789
NM_000138.5(FBN1):c.3268C>T (p.Pro1090Ser) rs1555398633
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg) rs1555407429
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.5(FBN1):c.3337+1G>A rs397515789
NM_000138.5(FBN1):c.3338-2A>G rs2141293812
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly) rs140597
NM_000138.5(FBN1):c.3370T>G (p.Cys1124Gly) rs2141293730
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.5(FBN1):c.3388del (p.His1130fs) rs1555398572
NM_000138.5(FBN1):c.3395_3396del (p.Thr1132fs) rs2141293662
NM_000138.5(FBN1):c.3398_3408del (p.Glu1133fs) rs1555398566
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe) rs397515791
NM_000138.5(FBN1):c.3545_3548dup (p.Asn1183fs) rs2141293186
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp) rs1555398512
NM_000138.5(FBN1):c.3590A>G (p.Asp1197Gly) rs112025387
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly) rs794728206
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del) rs1555398404
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr) rs137854471
NM_000138.5(FBN1):c.3757C>T (p.Gln1253Ter) rs1131691311
NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr) rs1555398173
NM_000138.5(FBN1):c.3871del (p.Cys1291fs) rs2141287465
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=) rs140648
NM_000138.5(FBN1):c.3965A>G (p.Asp1322Gly) rs1555397744
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser) rs397515798
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe) rs1555397718
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg) rs1566906506
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr) rs1555397704
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.5(FBN1):c.4100G>A (p.Cys1367Tyr) rs2141279869
NM_000138.5(FBN1):c.4120T>C (p.Cys1374Arg) rs2141279837
NM_000138.5(FBN1):c.4120T>G (p.Cys1374Gly) rs2141279837
NM_000138.5(FBN1):c.4166G>A (p.Cys1389Tyr) rs1060501026
NM_000138.5(FBN1):c.4168_4171del (p.Leu1390fs) rs1555397655
NM_000138.5(FBN1):c.4204T>G (p.Cys1402Gly) rs2141279646
NM_000138.5(FBN1):c.4210+1G>A rs730880106
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.5(FBN1):c.4286G>A (p.Cys1429Tyr) rs1555397545
NM_000138.5(FBN1):c.4292G>A (p.Cys1431Tyr) rs1555397540
NM_000138.5(FBN1):c.4293C>A (p.Cys1431Ter) rs112375043
NM_000138.5(FBN1):c.4293C>G (p.Cys1431Trp) rs112375043
NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn) rs794728221
NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr) rs2043365537
NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg) rs1555397403
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn) rs113693945
NM_000138.5(FBN1):c.4460-1G>C rs113082854
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala) rs1555397216
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.44T>G (p.Val15Gly) rs2140787791
NM_000138.5(FBN1):c.451G>T (p.Glu151Ter) rs1180715983
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp) rs794728225
NM_000138.5(FBN1):c.4582+1G>A rs1555397195
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro) rs778710767
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter) rs111231312
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) rs794728228
NM_000138.5(FBN1):c.4710G>A (p.Trp1570Ter) rs267606799
NM_000138.5(FBN1):c.473del (p.Gly158fs) rs2140711733
NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe) rs1555397024
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.4813del (p.Glu1605fs) rs1555397016
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=) rs869025408
NM_000138.5(FBN1):c.4816+1G>T rs1555397014
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.5(FBN1):c.4935G>A (p.Val1645=) rs886038897
NM_000138.5(FBN1):c.4942+4A>G rs397515815
NM_000138.5(FBN1):c.4943-1G>C rs1555396863
NM_000138.5(FBN1):c.4974_4975del (p.Cys1658fs) rs1555396858
NM_000138.5(FBN1):c.502T>G (p.Cys168Gly) rs2044515247
NM_000138.5(FBN1):c.5061C>A (p.Cys1687Ter) rs1555396838
NM_000138.5(FBN1):c.5065+1G>C rs1296209846
NM_000138.5(FBN1):c.5066del (p.Asp1689fs) rs727504347
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter) rs113249837
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.5(FBN1):c.5422+1del rs2141260277
NM_000138.5(FBN1):c.5444del (p.Gly1815fs) rs2141256088
NM_000138.5(FBN1):c.5493C>A (p.Tyr1831Ter) rs1555396201
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys) rs397515823
NM_000138.5(FBN1):c.5672-1G>A rs1555395849
NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr) rs794728237
NM_000138.5(FBN1):c.5714G>C (p.Cys1905Ser) rs112655848
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.577del (p.Gln193fs) rs1555401697
NM_000138.5(FBN1):c.5788+5G>T rs193922219
NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn) rs1555395820
NM_000138.5(FBN1):c.5800T>A (p.Cys1934Ser) rs1555395767
NM_000138.5(FBN1):c.5800T>C (p.Cys1934Arg) rs1555395767
NM_000138.5(FBN1):c.5823_5824del (p.Cys1942fs) rs1060501089
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr) rs397515828
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val) rs2141249218
NM_000138.5(FBN1):c.5857dup (p.Ser1953fs) rs1555395757
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter) rs363807
NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg) rs1555395745
NM_000138.5(FBN1):c.5917+1_5917+11del rs2141249066
NM_000138.5(FBN1):c.5917+3A>C rs202158568
NM_000138.5(FBN1):c.5917+5G>A rs1555395743
NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg) rs1555395659
NM_000138.5(FBN1):c.5956_5957insA (p.Pro1986fs) rs2141248130
NM_000138.5(FBN1):c.5992T>A (p.Cys1998Ser) rs2141248056
NM_000138.5(FBN1):c.6051T>G (p.Cys2017Trp) rs1566897420
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr) rs397515830
NM_000138.5(FBN1):c.6180C>G (p.Tyr2060Ter) rs974604498
NM_000138.5(FBN1):c.619dup (p.Thr207fs) rs1555401689
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr) rs1555395261
NM_000138.5(FBN1):c.6313G>A (p.Glu2105Lys) rs794728247
NM_000138.5(FBN1):c.6314-7_6322del rs2141240946
NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter) rs1555395229
NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter) rs267606797
NM_000138.5(FBN1):c.6379+2T>G rs113453570
NM_000138.5(FBN1):c.6379+5G>A rs1085307875
NM_000138.5(FBN1):c.6380-2A>C rs886041482
NM_000138.5(FBN1):c.6380A>T (p.Asp2127Val) rs2141240523
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6391T>C (p.Cys2131Arg) rs1555395210
NM_000138.5(FBN1):c.6409T>G (p.Cys2137Gly) rs2141240456
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6414del (p.Lys2138fs) rs1555395205
NM_000138.5(FBN1):c.6419G>A (p.Gly2140Glu) rs1064793118
NM_000138.5(FBN1):c.6483_6496+1del rs2141240279
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn) rs794728252
NM_000138.5(FBN1):c.6549T>G (p.Asn2183Lys) rs752192006
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr) rs910656654
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg) rs886038976
NM_000138.5(FBN1):c.6616+1G>A rs1064793980
NM_000138.5(FBN1):c.6616+1G>T rs1064793980
NM_000138.5(FBN1):c.6625del (p.Glu2209fs) rs2141235258
NM_000138.5(FBN1):c.6645del (p.Leu2216fs) rs1555394928
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.5(FBN1):c.6694T>A (p.Cys2232Ser) rs869025411
NM_000138.5(FBN1):c.6695G>C (p.Cys2232Ser) rs1060501054
NM_000138.5(FBN1):c.6739+1G>C rs869025419
NM_000138.5(FBN1):c.6740-2del rs1555394783
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly) rs1060501032
NM_000138.5(FBN1):c.6769_6770dup (p.Asp2257fs) rs2141232648
NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs) rs1555394777
NM_000138.5(FBN1):c.6783dup (p.Gln2262fs) rs2141232621
NM_000138.5(FBN1):c.6786_6787del (p.Gln2262fs) rs1555394776
NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys) rs886051245
NM_000138.5(FBN1):c.680_690del (p.Gln227fs) rs1555401671
NM_000138.5(FBN1):c.6872-14A>G rs1064793119
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.5(FBN1):c.6916_6934del (p.Arg2306fs) rs1555394630
NM_000138.5(FBN1):c.6932dup (p.Gly2312fs) rs1555394631
NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr) rs1555394629
NM_000138.5(FBN1):c.6951del (p.Glu2317fs) rs2141229903
NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg) rs111588631
NM_000138.5(FBN1):c.6992_6997+6del rs2141229796
NM_000138.5(FBN1):c.6997+1G>A rs2042997306
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter) rs1555394567
NM_000138.5(FBN1):c.7116dup (p.Pro2373fs) rs2141228932
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs) rs869025423
NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs) rs397515846
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) rs397515848
NM_000138.5(FBN1):c.7204+1G>T rs1555394557
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr) rs1131691479
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter) rs112550005
NM_000138.5(FBN1):c.7286G>T (p.Cys2429Phe) rs2141226916
NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser) rs1555394435
NM_000138.5(FBN1):c.7383del (p.Asn2461fs) rs2141226409
NM_000138.5(FBN1):c.7398C>A (p.Tyr2466Ter) rs1555394402
NM_000138.5(FBN1):c.7432G>T (p.Glu2478Ter) rs537570299
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg) rs1555394391
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.5(FBN1):c.7525T>A (p.Cys2509Ser) rs1060501055
NM_000138.5(FBN1):c.7527C>A (p.Cys2509Ter) rs2141222456
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg) rs794728272
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr) rs1555394238
NM_000138.5(FBN1):c.7605C>A (p.Cys2535Ter) rs113544411
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.5(FBN1):c.7693del (p.Cys2565fs) rs2141221743
NM_000138.5(FBN1):c.7699+1G>A rs1555394189
NM_000138.5(FBN1):c.772C>T (p.Gln258Ter) rs146348130
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys) rs1566891404
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000138.5(FBN1):c.7817_7819del (p.Val2606del) rs1555394136
NM_000138.5(FBN1):c.7819+3A>C rs1555394135
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe) rs111856492
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000138.5(FBN1):c.7977C>A (p.Cys2659Ter) rs1555393844
NM_000138.5(FBN1):c.8009del (p.Tyr2670fs) rs2141214634
NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg) rs1555393825
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter) rs112642323
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His) rs113722038
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs) rs1555393514
NM_000138.5(FBN1):c.8554_8561delinsTATCAC (p.Asp2852fs) rs2141209520
NM_000138.5(FBN1):c.937T>C (p.Cys313Arg) rs2141343372
NM_000138.5(FBN1):c.961_962del (p.Thr321fs) rs1555401002
NM_000214.3(JAG1):c.2114-5_2119delinsACACACCACCTGCACGTG rs2122603096
NM_000214.3(JAG1):c.2242T>C (p.Cys748Arg) rs2122602509
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_001110556.2(FLNA):c.1039G>A (p.Val347Ile) rs782234539
NM_001110556.2(FLNA):c.3127G>T (p.Val1043Leu) rs1475916528
NM_001160160.2(SCN5A):c.4714+95GGGT[3]
NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg) rs1554829003
NM_001161352.2(KCNMA1):c.2588C>T (p.Pro863Leu) rs150678882
NM_001257293.2(HNRNPH1):c.340C>T (p.Arg114Trp) rs1772040461
NM_001278689.2(EOGT):c.404G>A (p.Cys135Tyr) rs1247059195
NM_001278689.2(EOGT):c.78_81del (p.His27fs) rs771160630
NM_001711.6(BGN):c.238G>A (p.Gly80Ser) rs886037825
NM_001711.6(BGN):c.5G>A (p.Trp2Ter) rs886037823
NM_001711.6(BGN):c.908A>C (p.Gln303Pro) rs886037824
NM_001844.5(COL2A1):c.3111+2T>C rs1938818395
NM_001927.4(DES):c.700G>T (p.Glu234Ter) rs774739275
NM_001943.5(DSG2):c.2979G>T (p.Gln993His) rs565904909
NM_002317.7(LOX):c.351del (p.Arg118fs) rs1274931972
NM_002317.7(LOX):c.445G>T (p.Gly149Ter) rs766969559
NM_002317.7(LOX):c.53_66del (p.Leu18fs) rs2152591749
NM_002317.7(LOX):c.893T>G (p.Met298Arg) rs876657852
NM_002317.7(LOX):c.917T>C (p.Leu306Pro) rs2152589570
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro) rs727503473
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu) rs900988907
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005585.5(SMAD6):c.584T>G (p.Val195Gly)
NM_005585.5(SMAD6):c.611G>C (p.Gly204Ala) rs768542939
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.770C>T (p.Pro257Leu) rs1567092020
NM_005585.5(SMAD6):c.794del (p.His265fs) rs1567092071
NM_005585.5(SMAD6):c.817G>A (p.Glu273Lys)
NM_005902.4(SMAD3):c.1211T>C (p.Leu404Ser) rs1555414491
NM_006390.4(IPO8):c.1000dup (p.Val334fs) rs2136158926
NM_006390.4(IPO8):c.1420C>T (p.Arg474Ter) rs1160566841
NM_006390.4(IPO8):c.1428+5G>A rs2136152576
NM_006390.4(IPO8):c.2347_2369del (p.Leu783fs) rs2136127817
NM_006390.4(IPO8):c.2597_2601del (p.Leu866fs) rs1565492786
NM_006390.4(IPO8):c.2900-1G>A rs1243135564
NM_006390.4(IPO8):c.770_777del (p.Val257fs) rs2136163711
NM_006390.4(IPO8):c.776G>A (p.Trp259Ter) rs2136163716
NM_014633.5(CTR9):c.109G>C (p.Glu37Gln) rs2135353178
NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys) rs869312709
NM_014633.5(CTR9):c.1364A>G (p.Asn455Ser) rs772196842
NM_014633.5(CTR9):c.1405G>A (p.Glu469Lys) rs2135369472
NM_014633.5(CTR9):c.2296A>G (p.Thr766Ala) rs2135378796
NM_014633.5(CTR9):c.254G>A (p.Cys85Tyr) rs2135356050
NM_014633.5(CTR9):c.2633G>A (p.Arg878Gln) rs1397467879
NM_014633.5(CTR9):c.43G>A (p.Glu15Lys) rs2135351445
NM_014633.5(CTR9):c.50T>C (p.Ile17Thr) rs2135353090
NM_014633.5(CTR9):c.74C>G (p.Pro25Arg) rs2135353126
NM_014633.5(CTR9):c.76G>C (p.Glu26Gln) rs2135353143
NM_014679.5(CEP57):c.915_925dup (p.Leu309fs) rs1166323407
NM_015474.4(SAMHD1):c.109G>T (p.Glu37Ter) rs1684124082
NM_015874.6(RBPJ):c.154A>G (p.Arg52Gly) rs1553878211
NM_015874.6(RBPJ):c.157T>G (p.Phe53Val) rs1553880029
NM_015874.6(RBPJ):c.957C>A (p.Ser319Arg) rs1553882550
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg) rs754529382
NM_017617.5(NOTCH1):c.1393G>A (p.Ala465Thr) rs1057523819
NM_017617.5(NOTCH1):c.1935_1936del (p.Ala646fs) rs1554729443
NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter) rs1554729113
NM_017617.5(NOTCH1):c.3281G>A (p.Cys1094Tyr) rs1554728424
NM_017617.5(NOTCH1):c.415C>T (p.Gln139Ter) rs1554730670
NM_017617.5(NOTCH1):c.4222G>T (p.Glu1408Ter) rs587778569
NM_017617.5(NOTCH1):c.4241G>C (p.Cys1414Ser) rs1554728005
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn) rs1554727954
NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser) rs864622062
NM_017617.5(NOTCH1):c.5272C>G (p.Arg1758Gly) rs777859108
NM_017617.5(NOTCH1):c.6100T>C (p.Trp2034Arg) rs1554826698
NM_017617.5(NOTCH1):c.6128C>T (p.Ala2043Val) rs1554826688
NM_017617.5(NOTCH1):c.794_797delinsCC (p.Asn265fs) rs1554730184
NM_018127.7(ELAC2):c.[1218+3A>C;2009del]
NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg) rs796065347
NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr) rs796065346
NM_019074.4(DLL4):c.1240+5G>C rs1555393082
NM_019074.4(DLL4):c.1310G>C (p.Cys437Ser) rs1555393125
NM_019074.4(DLL4):c.1365C>G (p.Cys455Trp) rs796065345
NM_019074.4(DLL4):c.1397G>A (p.Cys466Tyr) rs1247027543
NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter) rs796065344
NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter) rs61750844
NM_019074.4(DLL4):c.1825C>T (p.Gln609Ter) rs1555393182
NM_019074.4(DLL4):c.265_267del (p.Phe89del) rs1555392837
NM_019074.4(DLL4):c.361G>C (p.Ala121Pro) rs796065350
NM_019074.4(DLL4):c.556C>T (p.Arg186Cys) rs796065348
NM_019074.4(DLL4):c.583T>C (p.Phe195Leu) rs796065351
NM_019074.4(DLL4):c.799C>A (p.Pro267Thr) rs796065349
NM_019074.4(DLL4):c.949A>C (p.Thr317Pro) rs1555393027
NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter) rs1553768038
Single allele

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