ClinVar Miner

List of variants studied for Junctional epidermolysis bullosa with pyloric atresia

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Minimum conflict level:
ClinVar version:
Total variants: 364
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HGVS dbSNP gnomAD frequency
NM_000213.5(ITGB4):c.*25C>T rs9367 0.71419
NM_000213.5(ITGB4):c.5054-25C>G rs2249613 0.66427
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro) rs871443 0.61836
NM_000213.5(ITGB4):c.3474+21T>C rs820388 0.50671
NM_000210.4(ITGA6):c.*435A>G rs17664 0.50450
NM_000210.4(ITGA6):c.1487+7A>G rs1920979 0.39869
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=) rs8669 0.37872
NM_000210.4(ITGA6):c.182+11A>G rs6744873 0.34918
NM_000210.4(ITGA6):c.182+15C>T rs6716540 0.34218
NM_000210.4(ITGA6):c.1138G>A (p.Ala380Thr) rs11895564 0.30018
NM_000210.4(ITGA6):c.2082C>T (p.Asp694=) rs2293649 0.24360
NM_000213.5(ITGB4):c.5054-15A>G rs8078247 0.15459
NM_000210.4(ITGA6):c.*204_*205insT rs61499296 0.12730
NM_000210.4(ITGA6):c.388-13C>A rs1574028 0.06398
NM_000213.5(ITGB4):c.1821G>A (p.Ser607=) rs2290460 0.05352
NM_000210.4(ITGA6):c.*595C>T rs114005087 0.04194
NM_000210.4(ITGA6):c.-138G>A rs144682022 0.04049
NM_000210.4(ITGA6):c.*2374T>C rs16860642 0.03818
NM_000210.4(ITGA6):c.2788G>A (p.Val930Met) rs10209072 0.03264
NM_000213.5(ITGB4):c.702C>T (p.Gly234=) rs61751843 0.02922
NM_000210.4(ITGA6):c.1388+8A>T rs16860507 0.02648
NM_000213.5(ITGB4):c.3729G>A (p.Pro1243=) rs61735289 0.02599
NM_000210.4(ITGA6):c.*1194A>G rs16860635 0.02532
NM_000213.5(ITGB4):c.3976+15G>C rs2603499 0.02476
NM_000210.4(ITGA6):c.2296G>T (p.Asp766Tyr) rs2737085 0.02255
NM_000213.5(ITGB4):c.513T>C (p.Phe171=) rs148048907 0.01650
NM_000213.5(ITGB4):c.1544G>A (p.Arg515His) rs61735297 0.01220
NM_000213.5(ITGB4):c.1377+15C>T rs78048168 0.01106
NM_000213.5(ITGB4):c.5053+14C>T rs78884789 0.00949
NM_000210.4(ITGA6):c.*2309C>T rs140413358 0.00826
NM_000213.5(ITGB4):c.1667G>A (p.Arg556His) rs142562582 0.00745
NM_000210.4(ITGA6):c.*2349T>C rs16860641 0.00704
NM_000213.5(ITGB4):c.*4C>T rs189610725 0.00703
NM_000210.4(ITGA6):c.3222G>A (p.Ter1074=) rs16860616 0.00670
NM_000210.4(ITGA6):c.2820G>A (p.Pro940=) rs34599583 0.00669
NM_000210.4(ITGA6):c.2247C>G (p.Val749=) rs61748247 0.00663
NM_000213.5(ITGB4):c.1893C>G (p.Ser631=) rs61735295 0.00640
NM_000213.5(ITGB4):c.-125G>C rs552008042 0.00591
NM_000210.4(ITGA6):c.986+14A>C rs138182078 0.00578
NM_000210.4(ITGA6):c.*919A>G rs139374896 0.00548
NM_000210.4(ITGA6):c.2728G>A (p.Asp910Asn) rs61737182 0.00515
NM_000210.4(ITGA6):c.*58T>C rs150113724 0.00509
NM_000213.5(ITGB4):c.4093G>A (p.Val1365Ile) rs145750695 0.00495
NM_000213.5(ITGB4):c.5408G>A (p.Arg1803Gln) rs80224547 0.00477
NM_000210.4(ITGA6):c.*702C>T rs138288164 0.00475
NM_000210.4(ITGA6):c.*882A>C rs147290718 0.00472
NM_000210.4(ITGA6):c.2505+9G>C rs144420350 0.00460
NM_000213.5(ITGB4):c.2730C>T (p.Ala910=) rs61735292 0.00454
NM_000210.4(ITGA6):c.*2088T>G rs114786166 0.00438
NM_000210.4(ITGA6):c.1744A>G (p.Ile582Val) rs16860530 0.00428
NM_000213.5(ITGB4):c.867C>T (p.His289=) rs150113215 0.00384
NM_000213.5(ITGB4):c.2207G>T (p.Cys736Phe) rs143203816 0.00370
NM_000210.4(ITGA6):c.*1459G>T rs142884581 0.00362
NM_000213.5(ITGB4):c.2115C>A (p.Asp705Glu) rs62639300 0.00357
NM_000210.4(ITGA6):c.*408C>T rs114499545 0.00350
NM_000213.5(ITGB4):c.5367C>T (p.Gly1789=) rs200199740 0.00332
NM_000210.4(ITGA6):c.2862G>C (p.Ser954=) rs61757097 0.00328
NM_000210.4(ITGA6):c.148A>G (p.Met50Val) rs138572695 0.00278
NM_000210.4(ITGA6):c.-14C>G rs144341070 0.00273
NM_000213.5(ITGB4):c.2701C>T (p.Leu901Phe) rs145644205 0.00272
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=) rs61735288 0.00269
NM_000213.5(ITGB4):c.4509G>A (p.Ser1503=) rs3191773 0.00241
NM_000210.4(ITGA6):c.*1135T>C rs144685011 0.00239
NM_000210.4(ITGA6):c.2989-6C>T rs147900066 0.00239
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615 0.00237
NM_000213.5(ITGB4):c.1434G>T (p.Gln478His) rs8079267 0.00227
NM_000213.5(ITGB4):c.-68C>T rs571564589 0.00215
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys) rs145976111 0.00214
NM_000213.5(ITGB4):c.3861C>T (p.Asn1287=) rs145351926 0.00213
NM_000210.4(ITGA6):c.2704C>T (p.Arg902Trp) rs199587983 0.00209
NM_000213.5(ITGB4):c.1533G>A (p.Pro511=) rs148312483 0.00145
NM_000213.5(ITGB4):c.282C>T (p.Thr94=) rs146609350 0.00143
NM_000210.4(ITGA6):c.2858G>A (p.Arg953His) rs150695902 0.00142
NM_000210.4(ITGA6):c.3006T>C (p.Phe1002=) rs139596061 0.00142
NM_000210.4(ITGA6):c.10G>A (p.Ala4Thr) rs201418157 0.00139
NM_000213.5(ITGB4):c.3112-3C>T rs151033645 0.00138
NM_000213.5(ITGB4):c.3598G>A (p.Gly1200Arg) rs75129664 0.00136
NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser) rs147963396 0.00135
NM_000210.4(ITGA6):c.*719T>C rs143976962 0.00099
NM_000213.5(ITGB4):c.2922C>T (p.Leu974=) rs139130590 0.00093
NM_000210.4(ITGA6):c.*1795C>G rs150636343 0.00091
NM_000210.4(ITGA6):c.2819C>T (p.Pro940Leu) rs138874769 0.00091
NM_000213.5(ITGB4):c.2638G>A (p.Asp880Asn) rs139092703 0.00086
NM_000213.5(ITGB4):c.4589C>T (p.Thr1530Met) rs140575355 0.00083
NM_000213.5(ITGB4):c.1428C>T (p.Cys476=) rs149030156 0.00081
NM_000213.5(ITGB4):c.5172C>T (p.Phe1724=) rs144339436 0.00077
NM_000213.5(ITGB4):c.3501C>T (p.Ser1167=) rs141513851 0.00070
NM_000213.5(ITGB4):c.5243G>A (p.Arg1748His) rs151053969 0.00069
NM_000210.4(ITGA6):c.2651A>G (p.Gln884Arg) rs61757096 0.00068
NM_000213.5(ITGB4):c.1924G>A (p.Glu642Lys) rs200371855 0.00068
NM_000213.5(ITGB4):c.2918C>A (p.Thr973Asn) rs146391318 0.00065
NM_000210.4(ITGA6):c.*1442T>C rs775057266 0.00062
NM_000213.5(ITGB4):c.1884C>T (p.Asp628=) rs140078827 0.00059
NM_000213.5(ITGB4):c.4559-4C>G rs199620842 0.00059
NM_000213.5(ITGB4):c.1181G>A (p.Arg394Lys) rs144655991 0.00048
NM_000213.5(ITGB4):c.1002+12A>G rs374003966 0.00044
NM_000213.5(ITGB4):c.1032A>G (p.Ser344=) rs145591069 0.00043
NM_000210.4(ITGA6):c.1374A>G (p.Ser458=) rs138908657 0.00041
NM_000213.5(ITGB4):c.1749C>T (p.Ile583=) rs144302042 0.00041
NM_000213.5(ITGB4):c.2145C>T (p.Ile715=) rs140999738 0.00041
NM_000213.5(ITGB4):c.5264C>T (p.Pro1755Leu) rs140577812 0.00041
NM_000213.5(ITGB4):c.1095G>A (p.Arg365=) rs141970956 0.00039
NM_000210.4(ITGA6):c.*1655G>T rs117775734 0.00038
NM_000213.5(ITGB4):c.1666C>T (p.Arg556Cys) rs150166497 0.00038
NM_000213.5(ITGB4):c.2108A>G (p.Lys703Arg) rs56119997 0.00035
NM_000213.5(ITGB4):c.2123C>T (p.Pro708Leu) rs146500584 0.00035
NM_000210.4(ITGA6):c.2109G>A (p.Thr703=) rs141344340 0.00034
NM_000213.5(ITGB4):c.-23T>C rs886053407 0.00034
NM_000213.5(ITGB4):c.4788C>T (p.Tyr1596=) rs369145421 0.00031
NM_000210.4(ITGA6):c.1850T>C (p.Ile617Thr) rs148815652 0.00030
NM_000210.4(ITGA6):c.3075G>A (p.Gly1025=) rs368851699 0.00030
NM_000210.4(ITGA6):c.*2081G>A rs1011003645 0.00029
NM_000213.5(ITGB4):c.162+9C>T rs200853535 0.00029
NM_000213.5(ITGB4):c.2503C>G (p.Pro835Ala) rs183705877 0.00029
NM_000213.5(ITGB4):c.3057C>T (p.Gly1019=) rs139146525 0.00029
NM_000210.4(ITGA6):c.*1348C>T rs759118407 0.00028
NM_000210.4(ITGA6):c.*751A>G rs2178473 0.00028
NM_000213.5(ITGB4):c.1056G>A (p.Ser352=) rs187527294 0.00028
NM_000210.4(ITGA6):c.*867T>C rs577105842 0.00026
NM_000210.4(ITGA6):c.-122C>T rs373890886 0.00022
NM_000213.5(ITGB4):c.1377+7C>T rs200004156 0.00022
NM_000213.5(ITGB4):c.2674C>T (p.Arg892Cys) rs139933962 0.00022
NM_000213.5(ITGB4):c.4389G>A (p.Thr1463=) rs574417789 0.00021
NM_000213.5(ITGB4):c.495C>T (p.Ser165=) rs75092172 0.00020
NM_000213.5(ITGB4):c.4707C>T (p.Gly1569=) rs138928712 0.00019
NM_000213.5(ITGB4):c.708C>T (p.Phe236=) rs146923910 0.00019
NM_000213.5(ITGB4):c.738+3G>A rs374647847 0.00018
NM_000213.5(ITGB4):c.2634-8C>T rs749527800 0.00016
NM_000213.5(ITGB4):c.2833C>T (p.Arg945Trp) rs150668075 0.00016
NM_000213.5(ITGB4):c.759G>A (p.Pro253=) rs776214034 0.00016
NM_000213.5(ITGB4):c.4663C>T (p.Arg1555Trp) rs150277911 0.00015
NM_000210.4(ITGA6):c.*776T>G rs767612998 0.00014
NM_000210.4(ITGA6):c.2538C>T (p.Leu846=) rs181814375 0.00014
NM_000213.5(ITGB4):c.*3G>A rs375665623 0.00014
NM_000213.5(ITGB4):c.1262C>T (p.Thr421Met) rs148535298 0.00014
NM_000213.5(ITGB4):c.210G>A (p.Ala70=) rs200500313 0.00014
NM_000213.5(ITGB4):c.3794-9C>T rs369461189 0.00014
NM_000213.5(ITGB4):c.5229G>A (p.Pro1743=) rs140140182 0.00013
NM_000213.5(ITGB4):c.2670G>A (p.Ala890=) rs146449374 0.00012
NM_000213.5(ITGB4):c.3624C>T (p.Ser1208=) rs145928221 0.00012
NM_000213.5(ITGB4):c.1201C>T (p.Arg401Trp) rs200122430 0.00011
NM_000213.5(ITGB4):c.2784C>T (p.Asp928=) rs201900480 0.00011
NM_000213.5(ITGB4):c.*58G>A rs569617597 0.00010
NM_000213.5(ITGB4):c.1593C>T (p.Tyr531=) rs778102219 0.00010
NM_000213.5(ITGB4):c.4018G>A (p.Gly1340Arg) rs140930313 0.00010
NM_000213.5(ITGB4):c.4064G>A (p.Arg1355His) rs373278372 0.00010
NM_000210.4(ITGA6):c.1517C>T (p.Thr506Ile) rs139324320 0.00009
NM_000213.5(ITGB4):c.312A>G (p.Gln104=) rs568835164 0.00009
NM_000213.5(ITGB4):c.4795C>T (p.Arg1599Cys) rs373902577 0.00009
NM_000213.5(ITGB4):c.5273G>A (p.Ser1758Asn) rs147573071 0.00009
NM_000213.5(ITGB4):c.5106C>T (p.Thr1702=) rs754832163 0.00008
NM_000213.5(ITGB4):c.5127C>T (p.Asn1709=) rs376733146 0.00008
NM_000210.4(ITGA6):c.*574C>G rs777604325 0.00007
NM_000210.4(ITGA6):c.3132A>G (p.Arg1044=) rs143159110 0.00007
NM_000213.5(ITGB4):c.1805A>T (p.His602Leu) rs201103623 0.00007
NM_000213.5(ITGB4):c.2578G>A (p.Gly860Ser) rs201523797 0.00007
NM_000213.5(ITGB4):c.3205T>C (p.Ser1069Pro) rs530916890 0.00007
NM_000213.5(ITGB4):c.4652C>T (p.Pro1551Leu) rs745935518 0.00007
NM_000210.4(ITGA6):c.2680-14A>G rs202105422 0.00006
NM_000213.5(ITGB4):c.1136G>A (p.Arg379Gln) rs367872059 0.00006
NM_000213.5(ITGB4):c.1936C>T (p.Arg646Cys) rs201350965 0.00006
NM_000213.5(ITGB4):c.2025C>T (p.Asp675=) rs202097958 0.00006
NM_000213.5(ITGB4):c.2834G>A (p.Arg945Gln) rs141953294 0.00006
NM_000213.5(ITGB4):c.5013C>T (p.Ile1671=) rs372195997 0.00006
NM_000210.4(ITGA6):c.*2285G>T rs892050167 0.00005
NM_000213.5(ITGB4):c.1179G>A (p.Thr393=) rs772335175 0.00005
NM_000213.5(ITGB4):c.1413C>T (p.Asn471=) rs375790655 0.00005
NM_000213.5(ITGB4):c.2830G>A (p.Val944Ile) rs770396319 0.00005
NM_000213.5(ITGB4):c.5314G>A (p.Glu1772Lys) rs375975797 0.00005
NM_000213.5(ITGB4):c.859C>T (p.Arg287Trp) rs140750952 0.00005
NM_000210.4(ITGA6):c.*1221C>T rs193228906 0.00004
NM_000210.4(ITGA6):c.2543C>T (p.Thr848Ile) rs779823355 0.00004
NM_000210.4(ITGA6):c.2792A>G (p.Asn931Ser) rs778456920 0.00004
NM_000213.5(ITGB4):c.*45C>T rs200901360 0.00004
NM_000213.5(ITGB4):c.2241G>A (p.Pro747=) rs377428995 0.00004
NM_000213.5(ITGB4):c.2962+14G>A rs369351466 0.00004
NM_000213.5(ITGB4):c.3215G>A (p.Arg1072Gln) rs750423295 0.00004
NM_000213.5(ITGB4):c.4067C>T (p.Ser1356Phe) rs376560109 0.00004
NM_000213.5(ITGB4):c.5092G>A (p.Glu1698Lys) rs776496019 0.00004
NM_000213.5(ITGB4):c.5313C>T (p.Thr1771=) rs138707718 0.00004
NM_000213.5(ITGB4):c.5434A>G (p.Ser1812Gly) rs755224034 0.00004
NM_000213.5(ITGB4):c.852C>T (p.Asn284=) rs529755730 0.00004
NM_000210.4(ITGA6):c.*2291G>A rs146711542 0.00003
NM_000210.4(ITGA6):c.*873A>G rs1336848111 0.00003
NM_000210.4(ITGA6):c.1969A>G (p.Ile657Val) rs368015396 0.00003
NM_000213.5(ITGB4):c.1581C>T (p.Gly527=) rs374868983 0.00003
NM_000213.5(ITGB4):c.3655+10C>T rs767096926 0.00003
NM_000213.5(ITGB4):c.4937C>T (p.Pro1646Leu) rs563796869 0.00003
NM_000210.4(ITGA6):c.*97G>A rs200991464 0.00002
NM_000210.4(ITGA6):c.3000T>C (p.Thr1000=) rs751960466 0.00002
NM_000210.4(ITGA6):c.759T>G (p.Pro253=) rs200561616 0.00002
NM_000213.5(ITGB4):c.1113C>T (p.Asp371=) rs772224695 0.00002
NM_000213.5(ITGB4):c.2782+10C>T rs757546708 0.00002
NM_000213.5(ITGB4):c.3317A>G (p.Asp1106Gly) rs370112615 0.00002
NM_000213.5(ITGB4):c.3463A>G (p.Met1155Val) rs756806922 0.00002
NM_000213.5(ITGB4):c.3977-4G>A rs369841673 0.00002
NM_000213.5(ITGB4):c.5053+15G>A rs375178466 0.00002
NM_000213.5(ITGB4):c.595C>A (p.Pro199Thr) rs780182739 0.00002
NM_000213.5(ITGB4):c.794dup (p.Ala266fs) rs757050033 0.00002
NM_000210.4(ITGA6):c.*101G>C rs55707934 0.00001
NM_000210.4(ITGA6):c.*308C>T rs555954477 0.00001
NM_000210.4(ITGA6):c.*50G>A rs886055130 0.00001
NM_000210.4(ITGA6):c.*648G>A rs368132853 0.00001
NM_000210.4(ITGA6):c.*703G>A rs886055133 0.00001
NM_000210.4(ITGA6):c.*747A>G rs564832593 0.00001
NM_000210.4(ITGA6):c.*782A>C rs886055134 0.00001
NM_000210.4(ITGA6):c.1388+5G>C rs370253342 0.00001
NM_000210.4(ITGA6):c.2169G>A (p.Gln723=) rs149917878 0.00001
NM_000210.4(ITGA6):c.2393C>T (p.Ser798Leu) rs201430068 0.00001
NM_000210.4(ITGA6):c.2777T>C (p.Leu926Pro) rs775389058 0.00001
NM_000210.4(ITGA6):c.2861C>T (p.Ser954Leu) rs565088728 0.00001
NM_000210.4(ITGA6):c.3069C>T (p.Leu1023=) rs748279299 0.00001
NM_000210.4(ITGA6):c.963G>A (p.Ala321=) rs745506887 0.00001
NM_000213.5(ITGB4):c.1093C>T (p.Arg365Trp) rs886053408 0.00001
NM_000213.5(ITGB4):c.1539C>T (p.Ser513=) rs886053410 0.00001
NM_000213.5(ITGB4):c.1560C>T (p.Cys520=) rs538635871 0.00001
NM_000213.5(ITGB4):c.1684T>C (p.Cys562Arg) rs121912463 0.00001
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr) rs80338755 0.00001
NM_000213.5(ITGB4):c.1972G>T (p.Val658Leu) rs747235341 0.00001
NM_000213.5(ITGB4):c.2067C>T (p.Asp689=) rs1020515752 0.00001
NM_000213.5(ITGB4):c.2371C>T (p.Arg791Cys) rs1368715042 0.00001
NM_000213.5(ITGB4):c.2551-10T>C rs1294215890 0.00001
NM_000213.5(ITGB4):c.2609+7C>T rs368466242 0.00001
NM_000213.5(ITGB4):c.2625C>T (p.Ala875=) rs561694657 0.00001
NM_000213.5(ITGB4):c.2755G>A (p.Gly919Ser) rs372890193 0.00001
NM_000213.5(ITGB4):c.2865C>T (p.Asp955=) rs780448706 0.00001
NM_000213.5(ITGB4):c.2962+11G>A rs554755694 0.00001
NM_000213.5(ITGB4):c.2986C>T (p.Gln996Ter) rs772142634 0.00001
NM_000213.5(ITGB4):c.299A>G (p.Gln100Arg) rs750443550 0.00001
NM_000213.5(ITGB4):c.3040C>T (p.Arg1014Trp) rs1164329850 0.00001
NM_000213.5(ITGB4):c.3097G>A (p.Ala1033Thr) rs763215637 0.00001
NM_000213.5(ITGB4):c.3338C>T (p.Thr1113Met) rs775373022 0.00001
NM_000213.5(ITGB4):c.3793+1G>A rs147222357 0.00001
NM_000213.5(ITGB4):c.3977-19T>A rs1434530468 0.00001
NM_000213.5(ITGB4):c.4402G>A (p.Ala1468Thr) rs374857648 0.00001
NM_000213.5(ITGB4):c.4440C>T (p.Arg1480=) rs781085072 0.00001
NM_000213.5(ITGB4):c.4532C>A (p.Ser1511Tyr) rs374562982 0.00001
NM_000213.5(ITGB4):c.4564C>T (p.Arg1522Cys) rs772482963 0.00001
NM_000213.5(ITGB4):c.4598G>A (p.Arg1533His) rs751357499 0.00001
NM_000213.5(ITGB4):c.4719T>C (p.His1573=) rs1448839951 0.00001
NM_000213.5(ITGB4):c.5054-11T>C rs774785239 0.00001
NM_000213.5(ITGB4):c.5072G>A (p.Arg1691Gln) rs376139144 0.00001
NM_000213.5(ITGB4):c.5179G>C (p.Glu1727Gln) rs774308604 0.00001
GRCh37/hg19 17q25.1(chr17:73735514-73739660)
ITGB4, 1-BP DEL, 1150G
NM_000210.4(ITGA6):c.*1021_*1024dup rs886055135
NM_000210.4(ITGA6):c.*1108A>G rs886055136
NM_000210.4(ITGA6):c.*1339T>A rs565937964
NM_000210.4(ITGA6):c.*1383C>G rs886055137
NM_000210.4(ITGA6):c.*1413T>C rs914745099
NM_000210.4(ITGA6):c.*142dup rs201055917
NM_000210.4(ITGA6):c.*1520T>G rs189127895
NM_000210.4(ITGA6):c.*1656G>T rs886055139
NM_000210.4(ITGA6):c.*1660dup rs532829832
NM_000210.4(ITGA6):c.*1809T>C rs6759915
NM_000210.4(ITGA6):c.*1883C>A rs561905909
NM_000210.4(ITGA6):c.*1901dup rs139972066
NM_000210.4(ITGA6):c.*1935G>A rs886055141
NM_000210.4(ITGA6):c.*1940dup rs150850702
NM_000210.4(ITGA6):c.*2069del rs886055143
NM_000210.4(ITGA6):c.*2124T>A rs529538465
NM_000210.4(ITGA6):c.*2315A>G rs886055144
NM_000210.4(ITGA6):c.*2362_*2364dup rs886055145
NM_000210.4(ITGA6):c.*434_*435insG rs886055131
NM_000210.4(ITGA6):c.*435A>T rs17664
NM_000210.4(ITGA6):c.*65C>G rs773696478
NM_000210.4(ITGA6):c.*678T>C rs886055132
NM_000210.4(ITGA6):c.-156G>A rs886055127
NM_000210.4(ITGA6):c.-28C>A rs1683908595
NM_000210.4(ITGA6):c.1269+14C>G rs199737747
NM_000210.4(ITGA6):c.1318A>G (p.Met440Val) rs1686178570
NM_000210.4(ITGA6):c.1393C>T (p.Arg465Trp) rs773159811
NM_000210.4(ITGA6):c.1427T>G (p.Val476Gly) rs886055128
NM_000210.4(ITGA6):c.1549+6T>C rs1686365525
NM_000210.4(ITGA6):c.1970+12_1970+14del rs532175144
NM_000210.4(ITGA6):c.2136A>T (p.Ala712=) rs2293648
NM_000210.4(ITGA6):c.2245-3del rs746830225
NM_000210.4(ITGA6):c.2324+9T>G rs1686756320
NM_000210.4(ITGA6):c.258C>A (p.Cys86Ter) rs200919733
NM_000210.4(ITGA6):c.2679+13A>C rs377248189
NM_000210.4(ITGA6):c.2900A>C (p.Lys967Thr) rs868362021
NM_000210.4(ITGA6):c.2926C>T (p.Arg976Ter) rs769808745
NM_000210.4(ITGA6):c.2938_2939insT (p.Asp980fs) rs1686926761
NM_000210.4(ITGA6):c.3167del (p.Lys1056fs) rs1559159868
NM_000210.4(ITGA6):c.835G>C (p.Gly279Arg) rs1686059928
NM_000210.4(ITGA6):c.915del (p.His305fs) rs2149047683
NM_000210.4(ITGA6):c.985G>A (p.Gly329Arg) rs920885330
NM_000213.5(ITGB4):c.*171T>C rs2061554670
NM_000213.5(ITGB4):c.-159A>C rs1473747702
NM_000213.5(ITGB4):c.112T>C (p.Cys38Arg) rs121912465
NM_000213.5(ITGB4):c.1210G>A (p.Glu404Lys) rs886053409
NM_000213.5(ITGB4):c.1370G>A (p.Cys457Tyr) rs2060870463
NM_000213.5(ITGB4):c.1461C>T (p.Gly487=) rs2060908227
NM_000213.5(ITGB4):c.1462C>T (p.Gln488Ter)
NM_000213.5(ITGB4):c.1660C>T (p.Arg554Ter) rs121912462
NM_000213.5(ITGB4):c.179G>A (p.Arg60His)
NM_000213.5(ITGB4):c.1860+10A>C rs8065184
NM_000213.5(ITGB4):c.1889G>A (p.Arg630His)
NM_000213.5(ITGB4):c.1945G>A (p.Glu649Lys) rs886053411
NM_000213.5(ITGB4):c.1968G>T (p.Lys656Asn) rs377703595
NM_000213.5(ITGB4):c.2009G>A (p.Arg670His) rs149659118
NM_000213.5(ITGB4):c.2012G>C (p.Cys671Ser) rs2061001234
NM_000213.5(ITGB4):c.214T>C (p.Cys72Arg)
NM_000213.5(ITGB4):c.2422G>A (p.Ala808Thr) rs147480547
NM_000213.5(ITGB4):c.2465T>C (p.Leu822Ser) rs902551587
NM_000213.5(ITGB4):c.2503C>A (p.Pro835Thr) rs183705877
NM_000213.5(ITGB4):c.2550+1G>A rs545619665
NM_000213.5(ITGB4):c.2633+1G>A rs1348061804
NM_000213.5(ITGB4):c.2783-2A>G rs758551913
NM_000213.5(ITGB4):c.2886G>A (p.Val962=) rs886053412
NM_000213.5(ITGB4):c.2962+5G>T rs918899742
NM_000213.5(ITGB4):c.3099G>A (p.Ala1033=) rs145314226
NM_000213.5(ITGB4):c.3230G>T (p.Arg1077Leu) rs201487753
NM_000213.5(ITGB4):c.3232C>G (p.Arg1078Gly) rs564989714
NM_000213.5(ITGB4):c.3279_3793+180del
NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs) rs2061333185
NM_000213.5(ITGB4):c.3384C>T (p.Gly1128=) rs111568842
NM_000213.5(ITGB4):c.3430C>G (p.His1144Asp) rs765807271
NM_000213.5(ITGB4):c.346C>T (p.Arg116Trp) rs146269824
NM_000213.5(ITGB4):c.3674G>A (p.Arg1225His) rs121912468
NM_000213.5(ITGB4):c.3707_3725del (p.Thr1236fs) rs2061355653
NM_000213.5(ITGB4):c.3765C>G (p.Val1255=) rs2061357111
NM_000213.5(ITGB4):c.3793+1G>C rs147222357
NM_000213.5(ITGB4):c.3793+2dup rs886041205
NM_000213.5(ITGB4):c.3809T>C (p.Met1270Thr) rs886053413
NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp) rs121912467
NM_000213.5(ITGB4):c.3842G>C (p.Arg1281Pro)
NM_000213.5(ITGB4):c.3858G>A (p.Glu1286=) rs372222796
NM_000213.5(ITGB4):c.3884G>A (p.Arg1295His) rs200586694
NM_000213.5(ITGB4):c.4101T>A (p.Asp1367Glu) rs886053414
NM_000213.5(ITGB4):c.4319-3C>T rs886053415
NM_000213.5(ITGB4):c.4319-7C>G rs376011638
NM_000213.5(ITGB4):c.4364C>T (p.Thr1455Ile)
NM_000213.5(ITGB4):c.4441G>A (p.Val1481Met) rs546010811
NM_000213.5(ITGB4):c.4444C>T (p.Leu1482=) rs756626295
NM_000213.5(ITGB4):c.4462C>T (p.Leu1488Phe)
NM_000213.5(ITGB4):c.4505_4508dup (p.Thr1504fs)
NM_000213.5(ITGB4):c.4558G>A (p.Asp1520Asn)
NM_000213.5(ITGB4):c.4620del (p.Thr1542fs) rs794726676
NM_000213.5(ITGB4):c.4643G>A (p.Trp1548Ter) rs121912464
NM_000213.5(ITGB4):c.467T>C (p.Leu156Pro) rs121912461
NM_000213.5(ITGB4):c.4708+2_4708+5del rs1568385893
NM_000213.5(ITGB4):c.4708+5G>C rs2061486620
NM_000213.5(ITGB4):c.4709-3del rs56408237
NM_000213.5(ITGB4):c.472_566+184del rs2060771091
NM_000213.5(ITGB4):c.4734dup (p.Asn1579fs) rs2143532950
NM_000213.5(ITGB4):c.4829G>A (p.Arg1610Gln) rs886053417
NM_000213.5(ITGB4):c.4902C>G (p.Ser1634=) rs57812564
NM_000213.5(ITGB4):c.5053+10A>G rs886053418
NM_000213.5(ITGB4):c.5055G>C (p.Gly1685=) rs148658410
NM_000213.5(ITGB4):c.5091del (p.Glu1698fs) rs1157557804
NM_000213.5(ITGB4):c.5219-15A>G rs142184100
NM_000213.5(ITGB4):c.5219-15A>T rs142184100
NM_000213.5(ITGB4):c.5297C>T (p.Thr1766Ile)
NM_000213.5(ITGB4):c.600dup (p.Phe201fs) rs752657203
NM_000213.5(ITGB4):c.690T>A (p.Asp230Glu) rs2060802259
NM_000213.5(ITGB4):c.701G>T (p.Gly234Val) rs1038415538
NM_000213.5(ITGB4):c.754C>A (p.Arg252Ser) rs201494421
NM_000213.5(ITGB4):c.847C>T (p.Arg283Cys) rs1422797135
NM_000213.5(ITGB4):c.93G>C (p.Lys31Asn) rs2060737043
NM_000213.5(ITGB4):c.953A>T (p.Asn318Ile) rs1454995069
NM_000213.5(ITGB4):c.997T>G (p.Tyr333Asp) rs761952496
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_201384.3(PLEC):c.1405C>T (p.Gln469Ter) rs879255260

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