ClinVar Miner

List of variants reported as pathogenic for cerebral cavernous malformation

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 355
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HGVS dbSNP gnomAD frequency
NM_007217.4(PDCD10):c.283C>T (p.Arg95Ter) rs1357917630 0.00001
NM_007217.4(PDCD10):c.474+5G>A rs1553759139 0.00001
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter) rs755800734 0.00001
NM_031443.4(CCM2):c.839C>G (p.Ser280Ter) rs1437280900 0.00001
NM_194454.3(KRIT1):c.2026-12A>G rs1041438637 0.00001
NM_194454.3(KRIT1):c.535C>T (p.Arg179Ter) rs777198867 0.00001
NC_000003.11:g.(?_167402096)_(167405501_?)del
NC_000003.11:g.(?_167402096)_(167422703_?)del
NC_000003.11:g.(?_167402096)_(167437945_?)del
NC_000003.11:g.(?_167405002)_(167413530_?)del
NC_000003.11:g.(?_167413364)_(167413530_?)del
NC_000003.11:g.(?_167413364)_(167437945_?)del
NC_000003.11:g.(?_167422610)_(167437965_?)del
NC_000003.11:g.(?_167437830)_(167437945_?)del
NC_000003.11:g.(?_167437830)_(167543111_?)del
NC_000003.11:g.(?_167437926)_(167445484_?)del
NC_000003.12:g.(?_167683298_(167734892_?)del
NC_000003.12:g.(?_167684288)_(167687713_?)del
NC_000003.12:g.(?_167684288)_(167697146_?)del
NC_000003.12:g.(?_167684288)_(167720177_?)del
NC_000007.13:g.(91715729_91718698)_(91864237_91972337)del
NC_000007.13:g.(?_45039933)_(45039982_?)del
NC_000007.13:g.(?_45039933)_(45115674_?)del
NC_000007.13:g.(?_45067284)_(45115676_?)del
NC_000007.13:g.(?_45077832)_(45115674_?)del
NC_000007.13:g.(?_45103497)_(45109580_?)del
NC_000007.13:g.(?_45103497)_(45115674_?)del
NC_000007.13:g.(?_45109405)_(45109580_?)del
NC_000007.13:g.(?_91502908)_(91871449_?)del
NC_000007.13:g.(?_91829918)_(91851387_?)del
NC_000007.13:g.(?_91830050)_(91830803_?)del
NC_000007.13:g.(?_91830050)_(91844111_?)del
NC_000007.13:g.(?_91830050)_(91867093_?)del
NC_000007.13:g.(?_91830690)_(91832501_?)del
NC_000007.13:g.(?_91842489)_(91843313_?)del
NC_000007.13:g.(?_91842489)_(91871449_?)del
NC_000007.13:g.(?_91851196)_(91871469_?)del
NC_000007.13:g.(?_91863743)_(91871469_?)del
NC_000007.13:g.(?_91863763)_(91871451_?)del
NC_000007.13:g.(?_91866961)_(91871469_?)del
NC_000007.14:g.(45018761_45019059)_(45095530_45095828)del
NC_000007.14:g.(?_45027705)_(45086112_?)del
NC_000007.14:g.(?_45038233)_(45038446_?)del
NC_000007.14:g.(?_45038253)_(45076470_?)del
NC_000007.14:g.(?_92213175)_(92242155_?)del
NC_000007.14:g.(?_92225700)_(92226702_?)del
NC_000007.14:g.(?_92234429)_(92234943_?)del
NC_000007.14:g.(?_92240973)_(92242155_?)del
NC_000007.14:g.45043702_46521017delins[AGAAGGAAATTT;45310743_46521014;45043709_45310738inv]
NC_000007.14:g.92201424dup rs2131089744
NM_001029835.2(CCM2):c.401T>C (p.Leu134Pro)
NM_001029835.2(CCM2):c.428T>G (p.Leu143Arg)
NM_001029835.2(CCM2):c.430G>C (p.Ala144Pro)
NM_001029835.2(CCM2):c.656T>C (p.Leu219Pro)
NM_007217.4(PDCD10):c.-117+6518_20del
NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter) rs1057517786
NM_007217.4(PDCD10):c.131_132insTT (p.Leu44_Arg45insTer) rs2108438340
NM_007217.4(PDCD10):c.131dup (p.Arg45fs) rs2108438340
NM_007217.4(PDCD10):c.160G>T (p.Glu54Ter) rs2108409609
NM_007217.4(PDCD10):c.160_161del (p.Glu54fs) rs2108409594
NM_007217.4(PDCD10):c.160_163del (p.Glu54fs) rs1553761266
NM_007217.4(PDCD10):c.164del (p.Asn55fs) rs2108409560
NM_007217.4(PDCD10):c.178C>T (p.Gln60Ter) rs1720895403
NM_007217.4(PDCD10):c.208A>T (p.Lys70Ter)
NM_007217.4(PDCD10):c.211del (p.Ser71fs) rs2108409355
NM_007217.4(PDCD10):c.211dup (p.Ser71fs) rs2108409355
NM_007217.4(PDCD10):c.229dup (p.Thr77fs)
NM_007217.4(PDCD10):c.243del (p.Arg82fs)
NM_007217.4(PDCD10):c.274_275del (p.Met92fs)
NM_007217.4(PDCD10):c.301C>T (p.Gln101Ter) rs1303470125
NM_007217.4(PDCD10):c.322C>T (p.Arg108Ter) rs1553760900
NM_007217.4(PDCD10):c.333del (p.Lys111fs) rs1559952317
NM_007217.4(PDCD10):c.333dup (p.Gln112fs) rs1559952317
NM_007217.4(PDCD10):c.334_337del (p.Gln112fs) rs2108403745
NM_007217.4(PDCD10):c.385C>T (p.Gln129Ter) rs1577329665
NM_007217.4(PDCD10):c.392_395del (p.Ile131fs)
NM_007217.4(PDCD10):c.394A>T (p.Lys132Ter) rs1577329627
NM_007217.4(PDCD10):c.396-2A>C
NM_007217.4(PDCD10):c.418G>T (p.Glu140Ter) rs1719762092
NM_007217.4(PDCD10):c.430dup (p.Thr144fs)
NM_007217.4(PDCD10):c.442_443del (p.Val148fs) rs2108375192
NM_007217.4(PDCD10):c.456T>G (p.Tyr152Ter) rs976585767
NM_007217.4(PDCD10):c.475-1G>A rs1577317859
NM_007217.4(PDCD10):c.510C>G (p.Tyr170Ter) rs1553759059
NM_007217.4(PDCD10):c.522_528del (p.Phe174fs) rs2108373966
NM_007217.4(PDCD10):c.529dup (p.Thr177fs)
NM_007217.4(PDCD10):c.557+1G>A rs747383685
NM_007217.4(PDCD10):c.557+1G>T
NM_007217.4(PDCD10):c.557+4_557+7del rs1553759042
NM_007217.4(PDCD10):c.558-2A>C rs1553758385
NM_007217.4(PDCD10):c.558-2A>G rs1553758385
NM_007217.4(PDCD10):c.565_566del (p.Asn189fs) rs1719352298
NM_007217.4(PDCD10):c.575dup (p.Ser193fs) rs1559941951
NM_007217.4(PDCD10):c.576_579del (p.Ser193fs) rs2108363227
NM_007217.4(PDCD10):c.584dup (p.Asn195fs) rs1559941903
NM_007217.4(PDCD10):c.586C>T (p.Arg196Ter) rs1404676956
NM_007217.4(PDCD10):c.592dup (p.Ile198fs)
NM_007217.4(PDCD10):c.62_71del (p.Pro21fs) rs2108484048
NM_007217.4(PDCD10):c.68_69del (p.Tyr23fs)
NM_007217.4(PDCD10):c.97-1G>A
NM_007217.4(PDCD10):c.97_150del rs2108438229
NM_031443.4(CCM2):c.1071_1074dup (p.Glu359delinsProTer) rs2128637642
NM_031443.4(CCM2):c.1078A>T (p.Lys360Ter) rs767248510
NM_031443.4(CCM2):c.1234dup (p.Arg412fs) rs1331484727
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs) rs1562921605
NM_031443.4(CCM2):c.130_131del (p.Thr44fs) rs1797324598
NM_031443.4(CCM2):c.147del (p.Leu49fs) rs2128729172
NM_031443.4(CCM2):c.151G>T (p.Glu51Ter) rs2128729177
NM_031443.4(CCM2):c.166del (p.Asp56fs)
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter) rs1562882049
NM_031443.4(CCM2):c.169_172del (p.Arg57fs) rs1562882045
NM_031443.4(CCM2):c.199dup (p.Val67fs)
NM_031443.4(CCM2):c.1A>G (p.Met1Val) rs137852842
NM_031443.4(CCM2):c.214C>T (p.Gln72Ter) rs886041157
NM_031443.4(CCM2):c.219_220del (p.Leu73fs) rs1562906798
NM_031443.4(CCM2):c.228dup (p.Pro77fs) rs2128747319
NM_031443.4(CCM2):c.23del (p.Gly8fs) rs1562848466
NM_031443.4(CCM2):c.288+1G>A rs1562906981
NM_031443.4(CCM2):c.289-1G>A rs1562907365
NM_031443.4(CCM2):c.298C>T (p.Gln100Ter) rs1259805013
NM_031443.4(CCM2):c.30+1G>A rs1562848479
NM_031443.4(CCM2):c.30+5_30+6delinsTT rs797044623
NM_031443.4(CCM2):c.305dup (p.His104fs) rs2128747608
NM_031443.4(CCM2):c.30G>A (p.Lys10=) rs1583819255
NM_031443.4(CCM2):c.319C>T (p.Gln107Ter) rs137852841
NM_031443.4(CCM2):c.346T>C (p.Ser116Pro) rs1562907616
NM_031443.4(CCM2):c.354C>A (p.Tyr118Ter) rs765548101
NM_031443.4(CCM2):c.369dup (p.Trp124fs)
NM_031443.4(CCM2):c.402_405dup (p.Ile136fs) rs1583970495
NM_031443.4(CCM2):c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer) rs1554365511
NM_031443.4(CCM2):c.43delinsATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)
NM_031443.4(CCM2):c.467del (p.Lys156fs)
NM_031443.4(CCM2):c.472+1G>C rs745710633
NM_031443.4(CCM2):c.473-2A>G rs1798890807
NM_031443.4(CCM2):c.499C>T (p.Gln167Ter)
NM_031443.4(CCM2):c.499_500del (p.Gln167fs)
NM_031443.4(CCM2):c.50_54del (p.Phe17fs)
NM_031443.4(CCM2):c.528_532del (p.Leu177fs) rs2128749865
NM_031443.4(CCM2):c.593T>G (p.Leu198Arg) rs137852843
NM_031443.4(CCM2):c.609G>A (p.Lys203=) rs1562912528
NM_031443.4(CCM2):c.610-1G>A rs1562913873
NM_031443.4(CCM2):c.631del (p.Cys211fs)
NM_031443.4(CCM2):c.643C>T (p.Gln215Ter) rs1798970889
NM_031443.4(CCM2):c.652C>T (p.Gln218Ter)
NM_031443.4(CCM2):c.652del (p.Gln218fs)
NM_031443.4(CCM2):c.663del (p.Val220_Tyr221insTer)
NM_031443.4(CCM2):c.71del (p.Gly24fs) rs1562881854
NM_031443.4(CCM2):c.745+1G>C rs1583984070
NM_031443.4(CCM2):c.745+2T>C rs1798979994
NM_031443.4(CCM2):c.790del (p.Glu264fs) rs1562917629
NM_031443.4(CCM2):c.83_87del (p.Arg28fs) rs2128729105
NM_031443.4(CCM2):c.93del (p.Ala32fs) rs2128729110
NM_031443.4(CCM2):c.970G>T (p.Glu324Ter) rs756276859
NM_194454.3(KRIT1):c.102+1G>A rs2131773689
NM_194454.3(KRIT1):c.1027A>T (p.Lys343Ter) rs2131527403
NM_194454.3(KRIT1):c.1084del (p.Ala362fs) rs1554518541
NM_194454.3(KRIT1):c.1088del (p.Ala363fs)
NM_194454.3(KRIT1):c.1096_1102del (p.Gly366fs)
NM_194454.3(KRIT1):c.1097del (p.Gly366fs) rs2131526402
NM_194454.3(KRIT1):c.1099dup (p.His367fs) rs2131526298
NM_194454.3(KRIT1):c.1107_1109delinsCA (p.Glu369fs) rs1796247872
NM_194454.3(KRIT1):c.1114C>T (p.Gln372Ter) rs780114710
NM_194454.3(KRIT1):c.1140_1143del (p.Arg382fs) rs2131525596
NM_194454.3(KRIT1):c.1144dup (p.Arg382fs) rs1554518386
NM_194454.3(KRIT1):c.1145del (p.Arg382fs)
NM_194454.3(KRIT1):c.1146+1G>A rs886039401
NM_194454.3(KRIT1):c.1146+1G>T rs886039401
NM_194454.3(KRIT1):c.1147-13C>G rs779465895
NM_194454.3(KRIT1):c.1150del (p.His383_Ile384insTer)
NM_194454.3(KRIT1):c.1159C>T (p.Gln387Ter) rs2131511667
NM_194454.3(KRIT1):c.1162C>T (p.Gln388Ter) rs1796087833
NM_194454.3(KRIT1):c.1175dup (p.Leu393fs) rs2131511337
NM_194454.3(KRIT1):c.1201C>T (p.Gln401Ter) rs1331502949
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) rs1057517753
NM_194454.3(KRIT1):c.1204_1208del (p.Asn402fs) rs1563275562
NM_194454.3(KRIT1):c.120del (p.Ile42fs)
NM_194454.3(KRIT1):c.1211G>A (p.Trp404Ter) rs2131510675
NM_194454.3(KRIT1):c.1212G>A (p.Trp404Ter) rs2131510638
NM_194454.3(KRIT1):c.1214_1215dup (p.Glu406fs)
NM_194454.3(KRIT1):c.1249A>T (p.Lys417Ter)
NM_194454.3(KRIT1):c.1254del (p.Tyr419fs)
NM_194454.3(KRIT1):c.1255-1G>A rs1563267100
NM_194454.3(KRIT1):c.1255-1_1256del rs1554514380
NM_194454.3(KRIT1):c.1255-2A>G rs1795437460
NM_194454.3(KRIT1):c.1255_1270del16 (p.Glu420fs) rs2131455281
NM_194454.3(KRIT1):c.1261A>T (p.Lys421Ter)
NM_194454.3(KRIT1):c.1263del (p.Val422fs) rs1795435288
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter) rs886039402
NM_194454.3(KRIT1):c.1281_1282dup (p.Asp428fs) rs1795430058
NM_194454.3(KRIT1):c.1287dup (p.Ser430fs) rs2131454847
NM_194454.3(KRIT1):c.1297del (p.Ser433fs) rs2131454682
NM_194454.3(KRIT1):c.1306_1310del (p.Leu436fs) rs1563266658
NM_194454.3(KRIT1):c.1333C>T (p.Gln445Ter) rs2131454006
NM_194454.3(KRIT1):c.1336C>T (p.Gln446Ter) rs2131453888
NM_194454.3(KRIT1):c.1342del (p.Met448fs) rs1584881309
NM_194454.3(KRIT1):c.1362_1363del (p.Gln455fs) rs1180476377
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter) rs267607203
NM_194454.3(KRIT1):c.1371_1372del (p.Gln458fs) rs1795413179
NM_194454.3(KRIT1):c.1372C>T (p.Gln458Ter) rs1563266163
NM_194454.3(KRIT1):c.1373del (p.Gln458fs) rs1563266147
NM_194454.3(KRIT1):c.1389_1390del (p.Ile463fs) rs2131452462
NM_194454.3(KRIT1):c.1391G>A (p.Trp464Ter) rs1563265959
NM_194454.3(KRIT1):c.1392G>A (p.Trp464Ter) rs997111087
NM_194454.3(KRIT1):c.1400C>A (p.Ser467Ter) rs1554513911
NM_194454.3(KRIT1):c.1400C>G (p.Ser467Ter) rs1554513911
NM_194454.3(KRIT1):c.1412-1G>T rs1554513070
NM_194454.3(KRIT1):c.1412-2A>C rs1563264113
NM_194454.3(KRIT1):c.1417C>T (p.Gln473Ter) rs1554513061
NM_194454.3(KRIT1):c.1423A>T (p.Lys475Ter)
NM_194454.3(KRIT1):c.1437_1438del (p.Lys479fs) rs1563263905
NM_194454.3(KRIT1):c.143del (p.Lys48fs) rs776245507
NM_194454.3(KRIT1):c.143dup (p.Arg49fs) rs776245507
NM_194454.3(KRIT1):c.1444C>T (p.Gln482Ter) rs747380313
NM_194454.3(KRIT1):c.1446dup (p.His483fs) rs2131437372
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) rs1057518665
NM_194454.3(KRIT1):c.1498C>T (p.Gln500Ter)
NM_194454.3(KRIT1):c.150_151del (p.Lys51fs)
NM_194454.3(KRIT1):c.1513C>T (p.Gln505Ter) rs1563263366
NM_194454.3(KRIT1):c.151_154del (p.Lys51fs) rs886041209
NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs) rs1057517754
NM_194454.3(KRIT1):c.152_155del (p.Lys51fs) rs886039400
NM_194454.3(KRIT1):c.1545del (p.Leu516fs) rs1554512658
NM_194454.3(KRIT1):c.1549G>T (p.Glu517Ter)
NM_194454.3(KRIT1):c.1558A>T (p.Lys520Ter) rs1584873058
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter) rs2131435199
NM_194454.3(KRIT1):c.1563+1G>A rs549591728
NM_194454.3(KRIT1):c.1564-1G>A
NM_194454.3(KRIT1):c.1596_1606del (p.Phe532fs)
NM_194454.3(KRIT1):c.1616T>G (p.Leu539Ter) rs1563245596
NM_194454.3(KRIT1):c.1664C>T (p.Ala555Val) rs2131326892
NM_194454.3(KRIT1):c.1683_1695del (p.Val562fs) rs1554504519
NM_194454.3(KRIT1):c.1702_1703del (p.Glu567_Ser568insTer) rs1554504484
NM_194454.3(KRIT1):c.1705A>T (p.Lys569Ter) rs2131326255
NM_194454.3(KRIT1):c.1710del (p.Lys570fs) rs1563244807
NM_194454.3(KRIT1):c.1713_1714del (p.His571fs) rs2131326123
NM_194454.3(KRIT1):c.1717_1720del (p.Gln573fs)
NM_194454.3(KRIT1):c.1730+1G>A rs2131325903
NM_194454.3(KRIT1):c.1730+4_1730+7del rs1563244596
NM_194454.3(KRIT1):c.1730+5G>A rs1563244618
NM_194454.3(KRIT1):c.1731-2A>G rs886039571
NM_194454.3(KRIT1):c.1732G>T (p.Glu578Ter)
NM_194454.3(KRIT1):c.1739dup (p.Asn580fs) rs1563243016
NM_194454.3(KRIT1):c.1742_1748dup (p.Ile584fs) rs1584800138
NM_194454.3(KRIT1):c.1742dup (p.Ser583fs)
NM_194454.3(KRIT1):c.1747_1756del (p.Ser583fs)
NM_194454.3(KRIT1):c.1765A>T (p.Lys589Ter) rs1554503702
NM_194454.3(KRIT1):c.1790G>A (p.Trp597Ter)
NM_194454.3(KRIT1):c.1791G>A (p.Trp597Ter) rs2131316175
NM_194454.3(KRIT1):c.1793dup (p.Asn599fs)
NM_194454.3(KRIT1):c.1807del (p.His603fs) rs886039572
NM_194454.3(KRIT1):c.1817_1818insTT (p.Lys606fs)
NM_194454.3(KRIT1):c.1819-1G>A rs1793304372
NM_194454.3(KRIT1):c.1854dup (p.His619fs) rs1793298143
NM_194454.3(KRIT1):c.1859del (p.His620fs) rs2131309299
NM_194454.3(KRIT1):c.1867dup (p.Arg623fs) rs2131309179
NM_194454.3(KRIT1):c.186del (p.Ser62fs)
NM_194454.3(KRIT1):c.1877T>A (p.Leu626Ter)
NM_194454.3(KRIT1):c.1879C>T (p.Gln627Ter) rs2131309013
NM_194454.3(KRIT1):c.1890G>A (p.Trp630Ter) rs1554503009
NM_194454.3(KRIT1):c.1905T>A (p.Tyr635Ter) rs140072597
NM_194454.3(KRIT1):c.1905T>G (p.Tyr635Ter)
NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter) rs1563240592
NM_194454.3(KRIT1):c.1927_1928del (p.Gln643fs) rs2131308345
NM_194454.3(KRIT1):c.1932_1933del (p.Phe645fs)
NM_194454.3(KRIT1):c.1932dup (p.Phe645fs) rs1554502927
NM_194454.3(KRIT1):c.1933_1936dup (p.Thr646fs)
NM_194454.3(KRIT1):c.1935del (p.Phe645fs)
NM_194454.3(KRIT1):c.1940del (p.Lys647fs) rs2131308132
NM_194454.3(KRIT1):c.1959_1960del (p.His653fs) rs1064793348
NM_194454.3(KRIT1):c.196C>T (p.Gln66Ter) rs771656368
NM_194454.3(KRIT1):c.1980_1981delinsGT (p.Gly661Ter) rs2131307481
NM_194454.3(KRIT1):c.2024del (p.Lys675fs) rs1793254982
NM_194454.3(KRIT1):c.2025+1G>A
NM_194454.3(KRIT1):c.2025+1G>T
NM_194454.3(KRIT1):c.2030T>A (p.Leu677Ter)
NM_194454.3(KRIT1):c.2030dup (p.Leu677fs)
NM_194454.3(KRIT1):c.2038dup (p.Ser680fs)
NM_194454.3(KRIT1):c.2043del (p.Lys682fs) rs1563212150
NM_194454.3(KRIT1):c.2049T>G (p.Tyr683Ter) rs2131089190
NM_194454.3(KRIT1):c.2058del (p.Phe686fs)
NM_194454.3(KRIT1):c.2064G>A (p.Trp688Ter) rs2131088953
NM_194454.3(KRIT1):c.2065C>T (p.Gln689Ter) rs1790098079
NM_194454.3(KRIT1):c.206T>A (p.Leu69Ter) rs1799516672
NM_194454.3(KRIT1):c.2081del (p.Asp694fs) rs1790094262
NM_194454.3(KRIT1):c.2084_2142+81del
NM_194454.3(KRIT1):c.208dup (p.Asp70fs) rs1799515896
NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter) rs1563211627
NM_194454.3(KRIT1):c.2100_2101dup (p.Ser701fs) rs2131088062
NM_194454.3(KRIT1):c.2113A>T (p.Lys705Ter) rs2131087886
NM_194454.3(KRIT1):c.2119_2120del (p.Ser707fs) rs1554490317
NM_194454.3(KRIT1):c.2122_2123insAAAT (p.Phe708Ter) rs1790085048
NM_194454.3(KRIT1):c.2143-1G>A rs1554489785
NM_194454.3(KRIT1):c.2143-2A>T
NM_194454.3(KRIT1):c.250C>T (p.Gln84Ter) rs751651833
NM_194454.3(KRIT1):c.254del (p.Gly85fs)
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter) rs1563313372
NM_194454.3(KRIT1):c.382G>T (p.Gly128Ter) rs2131676374
NM_194454.3(KRIT1):c.397dup (p.Tyr133fs) rs757560062
NM_194454.3(KRIT1):c.404T>A (p.Leu135Ter)
NM_194454.3(KRIT1):c.406C>T (p.Gln136Ter)
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly) rs137853139
NM_194454.3(KRIT1):c.486-2A>G rs965713946
NM_194454.3(KRIT1):c.508C>T (p.Gln170Ter)
NM_194454.3(KRIT1):c.570_583del (p.Ile191fs) rs1798258547
NM_194454.3(KRIT1):c.596C>G (p.Ser199Ter) rs2131662647
NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu) rs137853140
NM_194454.3(KRIT1):c.601C>T (p.Gln201Ter)
NM_194454.3(KRIT1):c.629dup (p.Tyr210Ter) rs2131662142
NM_194454.3(KRIT1):c.646A>T (p.Lys216Ter)
NM_194454.3(KRIT1):c.646_647del (p.Lys216fs) rs1798246011
NM_194454.3(KRIT1):c.649_661del (p.Ser217fs) rs1798241938
NM_194454.3(KRIT1):c.652_653insGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGTA (p.Lys218delinsSerSerArgLeuTer)
NM_194454.3(KRIT1):c.659dup (p.Leu220fs) rs1584981589
NM_194454.3(KRIT1):c.674del (p.Ala225fs) rs1563305648
NM_194454.3(KRIT1):c.695del (p.Pro232fs) rs1798228728
NM_194454.3(KRIT1):c.707C>A (p.Ser236Ter) rs1563305269
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter) rs886043300
NM_194454.3(KRIT1):c.729+1G>A rs1563305064
NM_194454.3(KRIT1):c.729+1G>T rs1563305064
NM_194454.3(KRIT1):c.729+2T>C rs1554528541
NM_194454.3(KRIT1):c.729+2T>G
NM_194454.3(KRIT1):c.730-1G>A rs1554527922
NM_194454.3(KRIT1):c.730-1G>C rs1554527922
NM_194454.3(KRIT1):c.730-2A>G rs1554527925
NM_194454.3(KRIT1):c.733_736del (p.Asp245fs) rs2131647862
NM_194454.3(KRIT1):c.747_750del (p.Asn250fs) rs1584976350
NM_194454.3(KRIT1):c.780C>G (p.Tyr260Ter)
NM_194454.3(KRIT1):c.782C>G (p.Ser261Ter) rs1554527817
NM_194454.3(KRIT1):c.787dup (p.Ile263fs) rs1798067945
NM_194454.3(KRIT1):c.790_818del (p.Gln264fs)
NM_194454.3(KRIT1):c.810dup (p.Trp271fs) rs1584975743
NM_194454.3(KRIT1):c.812G>A (p.Trp271Ter) rs1554527779
NM_194454.3(KRIT1):c.815_816insTA (p.Gln272fs)
NM_194454.3(KRIT1):c.842del (p.Asp281fs) rs1563302951
NM_194454.3(KRIT1):c.845+1G>A rs1563302941
NM_194454.3(KRIT1):c.845+2T>A rs1563302930
NM_194454.3(KRIT1):c.845+2T>C rs1563302930
NM_194454.3(KRIT1):c.847G>T (p.Glu283Ter)
NM_194454.3(KRIT1):c.857G>A (p.Trp286Ter)
NM_194454.3(KRIT1):c.859del (p.Trp286_Val287insTer) rs1797999551
NM_194454.3(KRIT1):c.875_876del (p.Leu292fs) rs2131643055
NM_194454.3(KRIT1):c.877del (p.His293fs)
NM_194454.3(KRIT1):c.879_880delinsTT (p.Arg294Ter)
NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter) rs764960797
NM_194454.3(KRIT1):c.891T>A (p.Cys297Ter)
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter) rs1554527169
NM_194454.3(KRIT1):c.935_954del (p.Arg311_Phe312insTer)
NM_194454.3(KRIT1):c.937dup (p.Ser313fs) rs1554527032
NM_194454.3(KRIT1):c.953_956del (p.Asp318fs)
NM_194454.3(KRIT1):c.972dup (p.Ile325fs)
NM_194454.3(KRIT1):c.976_979dup (p.Tyr327fs) rs1326827713
NM_194454.3(KRIT1):c.987C>A (p.Cys329Ter) rs267607204
NM_194454.3(KRIT1):c.990G>A (p.Trp330Ter) rs1554518783
NM_194454.3(KRIT1):c.992A>G (p.Tyr331Cys) rs1350475816
NM_194454.3(KRIT1):c.999del (p.Val334fs) rs1554518750

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