ClinVar Miner

List of variants studied for Matthew-Wood syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 638
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HGVS dbSNP gnomAD frequency
NM_022369.4(STRA6):c.*222G>A rs10910 0.56107
NM_001080477.4(TENM3):c.3863-26G>C rs13130747 0.55028
NM_000193.4(SHH):c.301-49G>A rs1233555 0.48163
NM_001080477.4(TENM3):c.1791T>C (p.Ser597=) rs2871328 0.41875
NM_182894.3(VSX2):c.471C>T (p.Ser157=) rs35435463 0.38441
NM_001080477.4(TENM3):c.3379+25G>C rs2309769 0.35017
NM_001080477.4(TENM3):c.3629+21G>A rs7676674 0.34515
NM_022369.4(STRA6):c.1167-10C>G rs2277608 0.19949
NM_182894.3(VSX2):c.*579C>T rs12588074 0.18128
NM_001080477.4(TENM3):c.3957C>T (p.Gly1319=) rs17263582 0.17773
NM_022369.4(STRA6):c.*127T>C rs11631944 0.16338
NM_022369.4(STRA6):c.331C>T (p.Leu111=) rs11857410 0.15148
NM_022369.4(STRA6):c.1581G>A (p.Met527Ile) rs736118 0.10407
NM_182894.3(VSX2):c.*1302G>A rs8020424 0.07204
NM_182894.3(VSX2):c.*455C>T rs73309254 0.07191
NM_182894.3(VSX2):c.*1074C>T rs34263984 0.06214
NM_000965.5(RARB):c.306+19G>A rs77748152 0.04069
NM_182894.3(VSX2):c.*670G>A rs45556237 0.03401
NM_022369.4(STRA6):c.*489T>C rs75117524 0.03106
NM_182894.3(VSX2):c.831G>A (p.Leu277=) rs62006815 0.02860
NM_022369.4(STRA6):c.*569T>C rs78299262 0.02762
NM_182894.3(VSX2):c.*1803A>C rs11848458 0.02759
NM_001001557.4(GDF6):c.936G>C (p.Ser312=) rs148861809 0.02643
NM_182894.3(VSX2):c.*39C>T rs117813701 0.02245
NM_000965.5(RARB):c.1155A>G (p.Ala385=) rs61733682 0.01990
NM_182894.3(VSX2):c.871G>A (p.Asp291Asn) rs75395981 0.01619
NM_022369.4(STRA6):c.597+9T>G rs28541560 0.01509
NM_182894.3(VSX2):c.*261G>T rs115396145 0.01157
NM_022369.4(STRA6):c.*75C>A rs182529524 0.01016
NM_022369.4(STRA6):c.1416G>A (p.Ser472=) rs351241 0.00924
NM_022369.4(STRA6):c.1903G>A (p.Gly635Ser) rs145614612 0.00790
NM_022369.4(STRA6):c.173C>T (p.Ser58Leu) rs142105038 0.00787
NM_022369.4(STRA6):c.367G>C (p.Ala123Pro) rs115067613 0.00746
NM_022369.4(STRA6):c.1771G>A (p.Ala591Thr) rs115331762 0.00660
NM_022369.4(STRA6):c.1840+12C>T rs118056606 0.00660
NM_182894.3(VSX2):c.*1252C>T rs28441537 0.00629
NM_182894.3(VSX2):c.*1377C>T rs150033933 0.00628
NM_182894.3(VSX2):c.*54G>A rs144840915 0.00627
NM_182894.3(VSX2):c.*291A>T rs148109679 0.00619
NM_001001557.4(GDF6):c.852C>G (p.Ser284=) rs74498875 0.00603
NM_182894.3(VSX2):c.*1311G>A rs114889622 0.00562
NM_022369.4(STRA6):c.91G>A (p.Gly31Ser) rs111489755 0.00533
NM_000193.4(SHH):c.300+17G>A rs116412905 0.00504
NM_182894.3(VSX2):c.*1640T>C rs140752449 0.00486
NM_182894.3(VSX2):c.299C>A (p.Pro100Gln) rs35214083 0.00448
NM_182894.3(VSX2):c.*855G>A rs45608043 0.00434
NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln) rs150814749 0.00390
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824 0.00366
NM_022369.4(STRA6):c.946G>A (p.Val316Met) rs150219390 0.00344
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) rs150221689 0.00303
NM_182894.3(VSX2):c.*962G>T rs367835329 0.00299
NM_005689.4(ABCB6):c.688-9C>T rs146410593 0.00294
NM_005689.4(ABCB6):c.1361T>C (p.Val454Ala) rs61733629 0.00285
NM_182894.3(VSX2):c.*1565G>A rs142543750 0.00242
NM_182894.3(VSX2):c.162C>A (p.Asp54Glu) rs61747367 0.00226
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) rs139075817 0.00217
NM_022369.4(STRA6):c.1301-12C>T rs79510426 0.00205
NM_022369.4(STRA6):c.993G>A (p.Thr331=) rs116753967 0.00205
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_182894.3(VSX2):c.*11G>A rs140814896 0.00193
NM_022369.4(STRA6):c.1836C>T (p.Asp612=) rs142048815 0.00192
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) rs140926412 0.00188
NM_020634.3(GDF3):c.583C>T (p.Arg195Trp) rs112895783 0.00165
NM_022369.4(STRA6):c.1026C>T (p.Ile342=) rs79382990 0.00160
NM_182894.3(VSX2):c.*250C>T rs144569223 0.00148
NM_182894.3(VSX2):c.*1212G>A rs117409214 0.00120
NM_022369.4(STRA6):c.1685-5C>G rs201730717 0.00112
NM_182894.3(VSX2):c.*156G>A rs141741225 0.00111
NM_022369.4(STRA6):c.826C>T (p.Arg276Cys) rs142089943 0.00106
NM_022369.4(STRA6):c.357C>T (p.Pro119=) rs139775570 0.00100
NM_001001557.4(GDF6):c.125G>T (p.Gly42Val) rs121909354 0.00098
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro) rs63751220 0.00090
NM_182894.3(VSX2):c.699C>T (p.Pro233=) rs141712104 0.00082
NM_022369.4(STRA6):c.*190C>T rs191496909 0.00079
NM_022369.4(STRA6):c.239G>A (p.Cys80Tyr) rs180889966 0.00070
NM_022369.4(STRA6):c.973G>T (p.Val325Leu) rs202174410 0.00067
NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) rs140579014 0.00061
NM_022369.4(STRA6):c.145C>T (p.Pro49Ser) rs151176007 0.00056
NM_000965.5(RARB):c.920A>C (p.Asn307Thr) rs146757345 0.00053
NM_182894.3(VSX2):c.939T>A (p.Ala313=) rs372651860 0.00051
NM_000965.5(RARB):c.768C>T (p.Ala256=) rs115482149 0.00049
NM_022369.4(STRA6):c.1419-11C>T rs199508878 0.00048
NM_022369.4(STRA6):c.388G>A (p.Ala130Thr) rs141477248 0.00045
NM_022369.4(STRA6):c.961A>C (p.Thr321Pro) rs118203962 0.00041
NM_022369.4(STRA6):c.902C>T (p.Thr301Ile) rs139450204 0.00040
NM_182894.3(VSX2):c.171C>G (p.Ala57=) rs201395979 0.00038
NM_000965.5(RARB):c.270G>A (p.Gly90=) rs116825683 0.00036
NM_182894.3(VSX2):c.*45T>C rs546717162 0.00034
NM_022369.4(STRA6):c.1957G>A (p.Val653Ile) rs150687411 0.00032
NM_022369.4(STRA6):c.*178C>T rs746189629 0.00029
NM_182894.3(VSX2):c.*1511C>T rs145366747 0.00029
NM_182894.3(VSX2):c.750G>A (p.Pro250=) rs192712847 0.00027
NM_001001557.4(GDF6):c.407-3C>T rs374740957 0.00026
NM_001001557.4(GDF6):c.921G>C (p.Ala307=) rs545149100 0.00024
NM_182894.3(VSX2):c.579G>A (p.Gln193=) rs182972044 0.00024
NM_000193.4(SHH):c.1178C>G (p.Ala393Gly) rs751239867 0.00023
NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys) rs148321868 0.00022
NM_182894.3(VSX2):c.244G>A (p.Gly82Arg) rs375294678 0.00021
NM_001001557.4(GDF6):c.429C>T (p.Leu143=) rs375992269 0.00020
NM_022369.4(STRA6):c.1391T>G (p.Leu464Arg) rs201408425 0.00020
NM_022369.4(STRA6):c.1692C>T (p.Tyr564=) rs757931484 0.00020
NM_022369.4(STRA6):c.2001C>T (p.Pro667=) rs147077716 0.00020
NM_001001557.4(GDF6):c.574C>T (p.Leu192Phe) rs565877093 0.00019
NM_022369.4(STRA6):c.*105G>A rs567317604 0.00019
NM_022369.4(STRA6):c.386T>C (p.Leu129Pro) rs139557843 0.00017
NM_001001557.4(GDF6):c.24C>G (p.Leu8=) rs369859861 0.00016
NM_001001557.4(GDF6):c.407-20A>C rs536565151 0.00016
NM_001001557.4(GDF6):c.435A>G (p.Arg145=) rs369127445 0.00016
NM_022369.4(STRA6):c.*324C>T rs757666088 0.00016
NM_022369.4(STRA6):c.1677C>T (p.Leu559=) rs201582612 0.00016
NM_022369.4(STRA6):c.406+5C>T rs202172221 0.00016
NM_182894.3(VSX2):c.249G>A (p.Gly83=) rs751526974 0.00016
NM_022369.4(STRA6):c.*10A>C rs545309882 0.00015
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427 0.00014
NM_001001557.4(GDF6):c.878T>C (p.Met293Thr) rs762304422 0.00014
NM_022369.4(STRA6):c.1970C>T (p.Thr657Met) rs144043304 0.00013
NM_000965.5(RARB):c.787-18A>G rs188860314 0.00012
NM_000965.5(RARB):c.741C>T (p.Ile247=) rs139584096 0.00011
NM_022369.4(STRA6):c.1242C>T (p.Arg414=) rs568924861 0.00011
NM_022369.4(STRA6):c.407-9A>T rs558310892 0.00011
NM_022369.4(STRA6):c.*189G>T rs529087735 0.00010
NM_022369.4(STRA6):c.1566G>T (p.Val522=) rs886051474 0.00010
NM_022369.4(STRA6):c.1668C>T (p.Ala556=) rs372149672 0.00010
NM_182894.3(VSX2):c.564G>A (p.Pro188=) rs201354547 0.00010
NM_001001557.4(GDF6):c.483G>T (p.Leu161=) rs200585226 0.00009
NM_001001557.4(GDF6):c.90C>G (p.Ser30=) rs143020575 0.00009
NM_001001557.4(GDF6):c.957C>A (p.Ala319=) rs757525366 0.00009
NM_022369.4(STRA6):c.*399G>A rs555469778 0.00009
NM_182894.3(VSX2):c.*782C>A rs140678898 0.00009
NM_022369.4(STRA6):c.1803C>T (p.Ala601=) rs2277607 0.00008
NM_022369.4(STRA6):c.180A>G (p.Ser60=) rs186185335 0.00008
NM_022369.4(STRA6):c.653T>C (p.Phe218Ser) rs764331156 0.00008
NM_001001557.4(GDF6):c.1071G>A (p.Lys357=) rs151332138 0.00007
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) rs561421783 0.00007
NM_022369.4(STRA6):c.366C>T (p.Asp122=) rs147428518 0.00007
NM_182894.3(VSX2):c.455+3G>T rs374857946 0.00007
NM_000965.5(RARB):c.264A>T (p.Ser88=) rs201295268 0.00006
NM_001001557.4(GDF6):c.169G>C (p.Asp57His) rs397514725 0.00006
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr) rs368498747 0.00006
NM_001001557.4(GDF6):c.700C>A (p.Arg234=) rs889118413 0.00006
NM_001001557.4(GDF6):c.726C>T (p.Ala242=) rs879574630 0.00006
NM_001001557.4(GDF6):c.902A>G (p.Glu301Gly) rs768532556 0.00006
NM_022369.4(STRA6):c.*381C>T rs544748271 0.00006
NM_022369.4(STRA6):c.1694C>T (p.Thr565Met) rs200483434 0.00006
NM_022369.4(STRA6):c.387C>A (p.Leu129=) rs150860532 0.00006
NM_022369.4(STRA6):c.591G>A (p.Val197=) rs138499753 0.00006
NM_182894.3(VSX2):c.*1757A>T rs886050745 0.00006
NM_182894.3(VSX2):c.862C>T (p.Arg288Trp) rs76055170 0.00006
NM_001001557.4(GDF6):c.1322A>G (p.Tyr441Cys) rs752600101 0.00005
NM_001001557.4(GDF6):c.186G>C (p.Arg62=) rs781205930 0.00005
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) rs387906794 0.00005
NM_022369.4(STRA6):c.1520G>A (p.Arg507Gln) rs751477964 0.00005
NM_182894.3(VSX2):c.*1537G>A rs149197006 0.00005
NM_182894.3(VSX2):c.504C>T (p.Asn168=) rs550984628 0.00005
NM_000965.5(RARB):c.991+10A>G rs772873447 0.00004
NM_001001557.4(GDF6):c.115T>C (p.Ser39Pro) rs749337343 0.00004
NM_001001557.4(GDF6):c.1282A>G (p.Ile428Val) rs144578143 0.00004
NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro) rs375108591 0.00004
NM_001001557.4(GDF6):c.30C>A (p.Ala10=) rs778071820 0.00004
NM_001001557.4(GDF6):c.40A>G (p.Ile14Val) rs773668867 0.00004
NM_001001557.4(GDF6):c.528C>T (p.Pro176=) rs548565578 0.00004
NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly) rs886043381 0.00004
NM_001001557.4(GDF6):c.857G>A (p.Arg286His) rs764553577 0.00004
NM_001080477.4(TENM3):c.4411C>T (p.Leu1471Phe) rs569985378 0.00004
NM_022369.4(STRA6):c.-28G>C rs578022066 0.00004
NM_022369.4(STRA6):c.1191A>G (p.Arg397=) rs373116551 0.00004
NM_022369.4(STRA6):c.1341G>A (p.Thr447=) rs368073018 0.00004
NM_022369.4(STRA6):c.1931C>T (p.Thr644Met) rs118203960 0.00004
NM_182894.3(VSX2):c.*10C>T rs559868301 0.00004
NM_000965.5(RARB):c.288C>T (p.Ser96=) rs138872395 0.00003
NM_000965.5(RARB):c.960C>A (p.Gly320=) rs775637491 0.00003
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) rs121909353 0.00003
NM_001001557.4(GDF6):c.1293A>G (p.Leu431=) rs768948963 0.00003
NM_001001557.4(GDF6):c.33C>T (p.Val11=) rs756577201 0.00003
NM_001001557.4(GDF6):c.407-19A>G rs1445514042 0.00003
NM_001001557.4(GDF6):c.418C>G (p.His140Asp) rs370351474 0.00003
NM_001001557.4(GDF6):c.544G>C (p.Gly182Arg) rs767572263 0.00003
NM_001001557.4(GDF6):c.594C>T (p.Asp198=) rs994022206 0.00003
NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu) rs886063208 0.00003
NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn) rs747899927 0.00003
NM_001001557.4(GDF6):c.809G>A (p.Arg270Gln) rs781155701 0.00003
NM_020634.3(GDF3):c.820C>T (p.Arg274Trp) rs387906946 0.00003
NM_022369.4(STRA6):c.-83G>A rs954180650 0.00003
NM_022369.4(STRA6):c.1670C>T (p.Ala557Val) rs748286024 0.00003
NM_022369.4(STRA6):c.1693A>G (p.Thr565Ala) rs548988185 0.00003
NM_022369.4(STRA6):c.1992T>C (p.Gly664=) rs775309731 0.00003
NM_022369.4(STRA6):c.4T>C (p.Ser2Pro) rs763026708 0.00003
NM_182894.3(VSX2):c.*1396C>T rs1425694540 0.00003
NM_182894.3(VSX2):c.*150G>C rs1345431869 0.00003
NM_182894.3(VSX2):c.*1753C>T rs886050744 0.00003
NM_182894.3(VSX2):c.777G>A (p.Ser259=) rs371707151 0.00003
NM_182894.3(VSX2):c.866G>A (p.Gly289Asp) rs199473712 0.00003
NM_000965.5(RARB):c.1316G>C (p.Ser439Thr) rs368432868 0.00002
NM_001001557.4(GDF6):c.1233C>T (p.Asp411=) rs774375234 0.00002
NM_001001557.4(GDF6):c.1302C>T (p.Asp434=) rs138730867 0.00002
NM_001001557.4(GDF6):c.18C>T (p.Val6=) rs745979763 0.00002
NM_001001557.4(GDF6):c.253C>T (p.Pro85Ser) rs766458579 0.00002
NM_001001557.4(GDF6):c.546G>A (p.Gly182=) rs528471783 0.00002
NM_001001557.4(GDF6):c.703G>A (p.Ala235Thr) rs1262253139 0.00002
NM_001001557.4(GDF6):c.728G>T (p.Gly243Val) rs772188117 0.00002
NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg) rs888138096 0.00002
NM_001001557.4(GDF6):c.964G>A (p.Ala322Thr) rs200317462 0.00002
NM_001080477.4(TENM3):c.1982A>G (p.Glu661Gly) rs766092012 0.00002
NM_022369.4(STRA6):c.1963C>T (p.Arg655Cys) rs118203959 0.00002
NM_022369.4(STRA6):c.720+15C>T rs760855615 0.00002
NM_182894.3(VSX2):c.679C>T (p.Arg227Trp) rs121912545 0.00002
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) rs137853341 0.00001
NM_000965.5(RARB):c.1038A>G (p.Glu346=) rs760433691 0.00001
NM_000965.5(RARB):c.410G>A (p.Arg137Gln) rs1387195672 0.00001
NM_001001557.4(GDF6):c.1106A>G (p.Asp369Gly) rs774573217 0.00001
NM_001001557.4(GDF6):c.1140C>T (p.Ala380=) rs1266231101 0.00001
NM_001001557.4(GDF6):c.1237G>A (p.Gly413Ser) rs984197099 0.00001
NM_001001557.4(GDF6):c.123G>A (p.Lys41=) rs756381156 0.00001
NM_001001557.4(GDF6):c.1254C>T (p.Ser418=) rs1195615332 0.00001
NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser) rs376427985 0.00001
NM_001001557.4(GDF6):c.157C>A (p.Arg53=) rs753326851 0.00001
NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser) rs1040541530 0.00001
NM_001001557.4(GDF6):c.224C>G (p.Pro75Arg) rs1378920942 0.00001
NM_001001557.4(GDF6):c.225C>T (p.Pro75=) rs763584976 0.00001
NM_001001557.4(GDF6):c.245C>T (p.Ala82Val) rs988646683 0.00001
NM_001001557.4(GDF6):c.246G>T (p.Ala82=) rs770548453 0.00001
NM_001001557.4(GDF6):c.267T>C (p.Gly89=) rs769923080 0.00001
NM_001001557.4(GDF6):c.27G>A (p.Ser9=) rs1215904741 0.00001
NM_001001557.4(GDF6):c.305A>G (p.Tyr102Cys) rs1204502085 0.00001
NM_001001557.4(GDF6):c.401G>A (p.Gly134Glu) rs966679733 0.00001
NM_001001557.4(GDF6):c.403C>T (p.Leu135=) rs1021290257 0.00001
NM_001001557.4(GDF6):c.407-5C>T rs758091453 0.00001
NM_001001557.4(GDF6):c.416C>T (p.Ser139Leu) rs1812463539 0.00001
NM_001001557.4(GDF6):c.492G>C (p.Ala164=) rs757029731 0.00001
NM_001001557.4(GDF6):c.534G>T (p.Gly178=) rs756016892 0.00001
NM_001001557.4(GDF6):c.554A>C (p.His185Pro) rs763275206 0.00001
NM_001001557.4(GDF6):c.583C>T (p.Leu195=) rs777218109 0.00001
NM_001001557.4(GDF6):c.606G>T (p.Leu202=) rs749079662 0.00001
NM_001001557.4(GDF6):c.642C>A (p.Val214=) rs1343770559 0.00001
NM_001001557.4(GDF6):c.647A>G (p.Asp216Gly) rs1812457627 0.00001
NM_001001557.4(GDF6):c.675C>T (p.Pro225=) rs1199396087 0.00001
NM_001001557.4(GDF6):c.701G>T (p.Arg234Leu) rs748092776 0.00001
NM_001001557.4(GDF6):c.709T>C (p.Trp237Arg) rs1036909955 0.00001
NM_001001557.4(GDF6):c.743G>T (p.Arg248Leu) rs765707228 0.00001
NM_001001557.4(GDF6):c.764C>T (p.Pro255Leu) rs762654952 0.00001
NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys) rs780167779 0.00001
NM_001001557.4(GDF6):c.82A>C (p.Ile28Leu) rs760516509 0.00001
NM_001001557.4(GDF6):c.876G>C (p.Glu292Asp) rs1401531865 0.00001
NM_001001557.4(GDF6):c.885G>A (p.Glu295=) rs565004364 0.00001
NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu) rs761634996 0.00001
NM_001001557.4(GDF6):c.924C>A (p.Gly308=) rs1586118480 0.00001
NM_001001557.4(GDF6):c.948G>A (p.Pro316=) rs774587683 0.00001
NM_001001557.4(GDF6):c.954C>T (p.Gly318=) rs1277401260 0.00001
NM_001080477.4(TENM3):c.7687C>T (p.Arg2563Trp) rs755000701 0.00001
NM_001080477.4(TENM3):c.8053G>A (p.Ala2685Thr) rs761695007 0.00001
NM_005689.4(ABCB6):c.1511T>C (p.Val504Ala) rs763768429 0.00001
NM_005689.4(ABCB6):c.169G>A (p.Ala57Thr) rs387906911 0.00001
NM_005689.4(ABCB6):c.2000G>C (p.Gly667Ala) rs1377097612 0.00001
NM_020634.3(GDF3):c.974C>T (p.Pro325Leu) rs566697767 0.00001
NM_022369.4(STRA6):c.*32G>T rs886051473 0.00001
NM_022369.4(STRA6):c.*368G>C rs1052233880 0.00001
NM_022369.4(STRA6):c.1053G>A (p.Val351=) rs753723974 0.00001
NM_022369.4(STRA6):c.105G>A (p.Gln35=) rs199782189 0.00001
NM_022369.4(STRA6):c.1300+10C>T rs940086112 0.00001
NM_022369.4(STRA6):c.1300+18G>A rs776408592 0.00001
NM_022369.4(STRA6):c.1349C>A (p.Ala450Asp) rs748743382 0.00001
NM_022369.4(STRA6):c.1377T>C (p.His459=) rs753144270 0.00001
NM_022369.4(STRA6):c.1519C>T (p.Arg507Trp) rs376678879 0.00001
NM_022369.4(STRA6):c.1521-1G>A rs397518484 0.00001
NM_022369.4(STRA6):c.1867T>G (p.Ser623Ala) rs781757356 0.00001
NM_022369.4(STRA6):c.1964G>A (p.Arg655His) rs397514639 0.00001
NM_022369.4(STRA6):c.69G>A (p.Trp23Ter) rs267607096 0.00001
NM_022369.4(STRA6):c.741T>G (p.Ser247=) rs748339728 0.00001
NM_022369.4(STRA6):c.878C>T (p.Pro293Leu) rs118203958 0.00001
NM_022369.4(STRA6):c.945G>A (p.Leu315=) rs779538114 0.00001
NM_182894.3(VSX2):c.*1029T>A rs45474800 0.00001
NM_182894.3(VSX2):c.*1447C>G rs886050741 0.00001
NM_182894.3(VSX2):c.*1521T>C rs886050742 0.00001
NM_182894.3(VSX2):c.*1764A>G rs886050746 0.00001
NM_182894.3(VSX2):c.*430C>T rs563564973 0.00001
NM_182894.3(VSX2):c.*590C>T rs1468412939 0.00001
NM_182894.3(VSX2):c.*775A>G rs886050740 0.00001
NM_182894.3(VSX2):c.175G>A (p.Gly59Arg) rs886050736 0.00001
NM_182894.3(VSX2):c.371-14C>T rs750778630 0.00001
NM_182894.3(VSX2):c.371-1G>A rs1395124261 0.00001
NM_182894.3(VSX2):c.505G>A (p.Glu169Lys) rs573993188 0.00001
NC_000003.11:g.(?_25470223)_(25824881_?)del
NC_000003.12:g.(?_25569738)_(25596636_?)dup
NC_000008.10:g.(?_96037237)_(97345794_?)dup
NM_000193.4(SHH):c.1102G>T (p.Glu368Ter) rs753315599
NM_000193.4(SHH):c.1210_1233del (p.Gly404_Gly411del) rs780129844
NM_000965.5(RARB):c.1151G>A (p.Gly384Asp) rs1701834292
NM_000965.5(RARB):c.1159C>A (p.Arg387Ser) rs397518483
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_000965.5(RARB):c.1180G>T (p.Glu394Ter) rs1575553528
NM_000965.5(RARB):c.1181A>G (p.Glu394Gly) rs2125330280
NM_000965.5(RARB):c.1193C>G (p.Ser398Ter) rs1701836507
NM_000965.5(RARB):c.1205_1206dup (p.Ile403fs) rs397518482
NM_000965.5(RARB):c.1210C>T (p.Gln404Ter) rs1575553547
NM_000965.5(RARB):c.1211A>C (p.Gln404Pro) rs1559485305
NM_000965.5(RARB):c.1250C>G (p.Thr417Ser)
NM_000965.5(RARB):c.157+1895G>A
NM_000965.5(RARB):c.158-15C>A rs374770716
NM_000965.5(RARB):c.158-1G>A
NM_000965.5(RARB):c.158-7A>G
NM_000965.5(RARB):c.158-9C>G rs78470280
NM_000965.5(RARB):c.224dup (p.Arg76fs) rs1695165531
NM_000965.5(RARB):c.306+7A>G
NM_000965.5(RARB):c.355C>T (p.Arg119Ter) rs397518481
NM_000965.5(RARB):c.409C>T (p.Arg137Ter) rs1553624279
NM_000965.5(RARB):c.545A>G (p.Glu182Gly)
NM_000965.5(RARB):c.602A>G (p.Tyr201Cys)
NM_000965.5(RARB):c.634C>T (p.Arg212Ter)
NM_000965.5(RARB):c.638T>C (p.Leu213Pro) rs869025222
NM_000965.5(RARB):c.646G>A (p.Gly216Ser)
NM_000965.5(RARB):c.683G>T (p.Cys228Phe)
NM_000965.5(RARB):c.806G>C (p.Arg269Thr) rs1701696076
NM_000965.5(RARB):c.835T>G (p.Phe279Val) rs1701696937
NM_000965.5(RARB):c.836T>C (p.Phe279Ser) rs1701697098
NM_000965.5(RARB):c.841G>T (p.Asp281Tyr) rs1701697256
NM_000965.5(RARB):c.851C>T (p.Thr284Ile) rs1575550287
NM_000965.5(RARB):c.872A>T (p.His291Leu) rs1553637470
NM_000965.5(RARB):c.881G>T (p.Gly294Val) rs2125325458
NM_000965.5(RARB):c.887G>C (p.Gly296Ala) rs869025221
NM_000965.5(RARB):c.991+11T>C
NM_001001557.4(GDF6):c.1001G>A (p.Arg334Gln)
NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly) rs1812445134
NM_001001557.4(GDF6):c.1008G>A (p.Thr336=)
NM_001001557.4(GDF6):c.100T>C (p.Ser34Pro) rs2130238372
NM_001001557.4(GDF6):c.1011C>A (p.Ala337=)
NM_001001557.4(GDF6):c.1012T>C (p.Phe338Leu)
NM_001001557.4(GDF6):c.1022G>A (p.Arg341His) rs764936321
NM_001001557.4(GDF6):c.1025A>G (p.His342Arg)
NM_001001557.4(GDF6):c.1032G>A (p.Lys344=)
NM_001001557.4(GDF6):c.1038C>T (p.His346=)
NM_001001557.4(GDF6):c.106G>A (p.Glu36Lys)
NM_001001557.4(GDF6):c.1080C>A (p.His360Gln) rs1812443639
NM_001001557.4(GDF6):c.1081G>A (p.Val361Met) rs771878776
NM_001001557.4(GDF6):c.1094A>C (p.Glu365Ala)
NM_001001557.4(GDF6):c.1099G>A (p.Gly367Ser) rs745989382
NM_001001557.4(GDF6):c.10C>T (p.Pro4Ser) rs1812746374
NM_001001557.4(GDF6):c.1116T>C (p.Ile372=)
NM_001001557.4(GDF6):c.1122G>C (p.Ala374=)
NM_001001557.4(GDF6):c.1125C>G (p.Pro375=)
NM_001001557.4(GDF6):c.1144C>T (p.His382Tyr) rs2130205366
NM_001001557.4(GDF6):c.1145A>T (p.His382Leu)
NM_001001557.4(GDF6):c.1146C>T (p.His382=)
NM_001001557.4(GDF6):c.1173G>A (p.Leu391=) rs1812441998
NM_001001557.4(GDF6):c.1178C>T (p.Ser393Leu) rs926947319
NM_001001557.4(GDF6):c.1179G>T (p.Ser393=)
NM_001001557.4(GDF6):c.1194C>A (p.Thr398=) rs767633784
NM_001001557.4(GDF6):c.119C>T (p.Thr40Ile)
NM_001001557.4(GDF6):c.1204A>G (p.Ile402Val)
NM_001001557.4(GDF6):c.1212G>A (p.Gln404=)
NM_001001557.4(GDF6):c.1214C>T (p.Thr405Met)
NM_001001557.4(GDF6):c.1229T>G (p.Met410Arg) rs1812440547
NM_001001557.4(GDF6):c.122A>G (p.Lys41Arg)
NM_001001557.4(GDF6):c.1242C>T (p.Ser414=)
NM_001001557.4(GDF6):c.1244C>T (p.Thr415Ile) rs1269055850
NM_001001557.4(GDF6):c.1248G>T (p.Pro416=)
NM_001001557.4(GDF6):c.125G>C (p.Gly42Ala) rs121909354
NM_001001557.4(GDF6):c.1268C>T (p.Thr423Ile) rs769886732
NM_001001557.4(GDF6):c.1296C>T (p.Tyr432=)
NM_001001557.4(GDF6):c.1306G>A (p.Gly436Ser) rs1352200590
NM_001001557.4(GDF6):c.131_132delinsTT (p.Arg44Leu)
NM_001001557.4(GDF6):c.1333G>C (p.Glu445Gln) rs1331641099
NM_001001557.4(GDF6):c.1347G>A (p.Val449=)
NM_001001557.4(GDF6):c.1353G>C (p.Ser451=)
NM_001001557.4(GDF6):c.1357G>A (p.Gly453Ser) rs1178158158
NM_001001557.4(GDF6):c.1365G>A (p.Arg455=)
NM_001001557.4(GDF6):c.1365G>T (p.Arg455Ser)
NM_001001557.4(GDF6):c.136C>T (p.Arg46Cys)
NM_001001557.4(GDF6):c.141G>A (p.Lys47=)
NM_001001557.4(GDF6):c.144A>G (p.Glu48=)
NM_001001557.4(GDF6):c.158G>A (p.Arg53Gln)
NM_001001557.4(GDF6):c.168C>G (p.Arg56=)
NM_001001557.4(GDF6):c.180G>A (p.Ala60=)
NM_001001557.4(GDF6):c.184C>T (p.Arg62Trp)
NM_001001557.4(GDF6):c.19C>T (p.Leu7=)
NM_001001557.4(GDF6):c.201A>G (p.Pro67=) rs2130238034
NM_001001557.4(GDF6):c.207G>T (p.Pro69=) rs2130238023
NM_001001557.4(GDF6):c.209G>A (p.Arg70Gln)
NM_001001557.4(GDF6):c.212C>T (p.Pro71Leu)
NM_001001557.4(GDF6):c.213T>G (p.Pro71=) rs1465598776
NM_001001557.4(GDF6):c.215A>G (p.Gln72Arg)
NM_001001557.4(GDF6):c.219C>A (p.Asp73Glu)
NM_001001557.4(GDF6):c.223C>A (p.Pro75Thr) rs1040541530
NM_001001557.4(GDF6):c.227G>A (p.Arg76Gln)
NM_001001557.4(GDF6):c.229G>C (p.Ala77Pro)
NM_001001557.4(GDF6):c.239C>T (p.Pro80Leu) rs2130237859
NM_001001557.4(GDF6):c.245C>A (p.Ala82Glu)
NM_001001557.4(GDF6):c.246G>A (p.Ala82=)
NM_001001557.4(GDF6):c.251A>G (p.Glu84Gly)
NM_001001557.4(GDF6):c.252G>A (p.Glu84=)
NM_001001557.4(GDF6):c.258A>T (p.Pro86=) rs2130237722
NM_001001557.4(GDF6):c.268C>T (p.Pro90Ser)
NM_001001557.4(GDF6):c.26C>T (p.Ser9Leu)
NM_001001557.4(GDF6):c.272G>C (p.Arg91Pro) rs768741148
NM_001001557.4(GDF6):c.273C>A (p.Arg91=)
NM_001001557.4(GDF6):c.276G>A (p.Val92=)
NM_001001557.4(GDF6):c.281C>G (p.Pro94Arg) rs367883918
NM_001001557.4(GDF6):c.283C>T (p.His95Tyr) rs2130237638
NM_001001557.4(GDF6):c.286G>C (p.Glu96Gln)
NM_001001557.4(GDF6):c.295C>T (p.Leu99=) rs746383854
NM_001001557.4(GDF6):c.298T>C (p.Ser100Pro) rs2130237604
NM_001001557.4(GDF6):c.301A>G (p.Ile101Val)
NM_001001557.4(GDF6):c.306C>T (p.Tyr102=)
NM_001001557.4(GDF6):c.316T>A (p.Ser106Thr) rs751465124
NM_001001557.4(GDF6):c.31G>A (p.Val11Ile) rs1812745847
NM_001001557.4(GDF6):c.323C>A (p.Ala108Asp) rs1812739209
NM_001001557.4(GDF6):c.327G>A (p.Glu109=)
NM_001001557.4(GDF6):c.332T>G (p.Leu111Arg)
NM_001001557.4(GDF6):c.335G>C (p.Gly112Ala)
NM_001001557.4(GDF6):c.339C>T (p.Ile113=)
NM_001001557.4(GDF6):c.348C>G (p.Ser116Arg)
NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe) rs772435568
NM_001001557.4(GDF6):c.363C>T (p.Ser121=)
NM_001001557.4(GDF6):c.365A>C (p.Lys122Thr) rs2130237421
NM_001001557.4(GDF6):c.366G>A (p.Lys122=)
NM_001001557.4(GDF6):c.36C>T (p.Phe12=)
NM_001001557.4(GDF6):c.377C>T (p.Thr126Met) rs536331514
NM_001001557.4(GDF6):c.378G>T (p.Thr126=) rs1812738202
NM_001001557.4(GDF6):c.387C>T (p.Ser129=) rs2130237359
NM_001001557.4(GDF6):c.393A>G (p.Val131=) rs2130237356
NM_001001557.4(GDF6):c.398G>A (p.Arg133Lys) rs2130237348
NM_001001557.4(GDF6):c.399G>A (p.Arg133=)
NM_001001557.4(GDF6):c.406+11A>G
NM_001001557.4(GDF6):c.406+15A>C
NM_001001557.4(GDF6):c.406+17A>G rs779812603
NM_001001557.4(GDF6):c.406+19G>A
NM_001001557.4(GDF6):c.406+19G>T
NM_001001557.4(GDF6):c.407-10dup
NM_001001557.4(GDF6):c.407-9A>G
NM_001001557.4(GDF6):c.413T>C (p.Leu138Pro) rs2130208544
NM_001001557.4(GDF6):c.420C>T (p.His140=) rs375769410
NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro) rs1812463179
NM_001001557.4(GDF6):c.432G>C (p.Arg144=)
NM_001001557.4(GDF6):c.449T>C (p.Phe150Ser)
NM_001001557.4(GDF6):c.454G>A (p.Val152Met)
NM_001001557.4(GDF6):c.457T>C (p.Ser153Pro) rs1470026888
NM_001001557.4(GDF6):c.457_458delinsAA (p.Ser153Asn) rs2130208395
NM_001001557.4(GDF6):c.460A>C (p.Met154Leu) rs766667262
NM_001001557.4(GDF6):c.460A>G (p.Met154Val) rs766667262
NM_001001557.4(GDF6):c.461T>C (p.Met154Thr)
NM_001001557.4(GDF6):c.468A>G (p.Ser156=)
NM_001001557.4(GDF6):c.481C>G (p.Leu161Val) rs958381615
NM_001001557.4(GDF6):c.513G>A (p.Gln171=) rs2130208153
NM_001001557.4(GDF6):c.534G>A (p.Gly178=)
NM_001001557.4(GDF6):c.535C>A (p.Pro179Thr)
NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln) rs1444302456
NM_001001557.4(GDF6):c.544G>A (p.Gly182Arg)
NM_001001557.4(GDF6):c.549G>T (p.Pro183=)
NM_001001557.4(GDF6):c.558G>A (p.Val186=)
NM_001001557.4(GDF6):c.581C>A (p.Pro194His)
NM_001001557.4(GDF6):c.598C>A (p.Arg200=)
NM_001001557.4(GDF6):c.5A>G (p.Asp2Gly)
NM_001001557.4(GDF6):c.603C>T (p.Thr201=)
NM_001001557.4(GDF6):c.604C>T (p.Leu202=) rs1175841699
NM_001001557.4(GDF6):c.607G>T (p.Asp203Tyr)
NM_001001557.4(GDF6):c.60G>T (p.Leu20Phe)
NM_001001557.4(GDF6):c.611C>A (p.Pro204Gln)
NM_001001557.4(GDF6):c.611C>T (p.Pro204Leu) rs999492360
NM_001001557.4(GDF6):c.612G>A (p.Pro204=) rs777541984
NM_001001557.4(GDF6):c.612G>T (p.Pro204=)
NM_001001557.4(GDF6):c.616G>A (p.Gly206Arg)
NM_001001557.4(GDF6):c.616G>C (p.Gly206Arg)
NM_001001557.4(GDF6):c.619G>A (p.Ala207Thr) rs2130207705
NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu) rs903826881
NM_001001557.4(GDF6):c.625C>T (p.Pro209Ser)
NM_001001557.4(GDF6):c.627G>A (p.Pro209=)
NM_001001557.4(GDF6):c.631G>A (p.Gly211Ser) rs552234954
NM_001001557.4(GDF6):c.631G>C (p.Gly211Arg)
NM_001001557.4(GDF6):c.643T>C (p.Phe215Leu) rs2130207617
NM_001001557.4(GDF6):c.682C>T (p.Gln228Ter)
NM_001001557.4(GDF6):c.684G>C (p.Gln228His) rs1006833447
NM_001001557.4(GDF6):c.706G>T (p.Ala236Ser) rs933957352
NM_001001557.4(GDF6):c.707C>T (p.Ala236Val) rs781041300
NM_001001557.4(GDF6):c.715G>A (p.Glu239Lys)
NM_001001557.4(GDF6):c.719T>C (p.Leu240Pro)
NM_001001557.4(GDF6):c.724G>C (p.Ala242Pro)
NM_001001557.4(GDF6):c.725C>T (p.Ala242Val)
NM_001001557.4(GDF6):c.727G>T (p.Gly243Trp)
NM_001001557.4(GDF6):c.72G>A (p.Gln24=)
NM_001001557.4(GDF6):c.732G>C (p.Glu244Asp)
NM_001001557.4(GDF6):c.733G>A (p.Ala245Thr)
NM_001001557.4(GDF6):c.740C>A (p.Ala247Glu) rs1228278989
NM_001001557.4(GDF6):c.741_742delinsAA (p.Arg248Ser) rs2130207135
NM_001001557.4(GDF6):c.742C>T (p.Arg248Cys) rs750809706
NM_001001557.4(GDF6):c.749G>C (p.Arg250Pro)
NM_001001557.4(GDF6):c.755C>G (p.Pro252Arg)
NM_001001557.4(GDF6):c.756C>T (p.Pro252=)
NM_001001557.4(GDF6):c.758A>G (p.Gln253Arg) rs121909355
NM_001001557.4(GDF6):c.758A>T (p.Gln253Leu) rs121909355
NM_001001557.4(GDF6):c.75G>A (p.Gln25=) rs776298591
NM_001001557.4(GDF6):c.764C>A (p.Pro255Gln)
NM_001001557.4(GDF6):c.765G>T (p.Pro255=)
NM_001001557.4(GDF6):c.767C>T (p.Pro256Leu)
NM_001001557.4(GDF6):c.769C>T (p.Pro257Ser)
NM_001001557.4(GDF6):c.76G>C (p.Ala26Pro)
NM_001001557.4(GDF6):c.773C>G (p.Pro258Arg)
NM_001001557.4(GDF6):c.774G>C (p.Pro258=) rs769581547
NM_001001557.4(GDF6):c.774G>T (p.Pro258=)
NM_001001557.4(GDF6):c.808C>T (p.Arg270Trp) rs866273025
NM_001001557.4(GDF6):c.818A>G (p.Gln273Arg)
NM_001001557.4(GDF6):c.827C>G (p.Ala276Gly)
NM_001001557.4(GDF6):c.832C>T (p.Leu278=) rs2130206656
NM_001001557.4(GDF6):c.83T>C (p.Ile28Thr) rs2130238399
NM_001001557.4(GDF6):c.845C>G (p.Thr282Ser)
NM_001001557.4(GDF6):c.854A>T (p.Gln285Leu) rs757715384
NM_001001557.4(GDF6):c.855G>C (p.Gln285His)
NM_001001557.4(GDF6):c.856C>T (p.Arg286Cys) rs1303995573
NM_001001557.4(GDF6):c.861G>A (p.Lys287=)
NM_001001557.4(GDF6):c.870C>A (p.Phe290Leu) rs765928590
NM_001001557.4(GDF6):c.870C>T (p.Phe290=) rs765928590
NM_001001557.4(GDF6):c.880C>G (p.Arg294Gly)
NM_001001557.4(GDF6):c.881G>A (p.Arg294His) rs2130206472
NM_001001557.4(GDF6):c.883G>A (p.Glu295Lys) rs1451309614
NM_001001557.4(GDF6):c.897G>A (p.Ser299=)
NM_001001557.4(GDF6):c.897G>C (p.Ser299=)
NM_001001557.4(GDF6):c.903G>A (p.Glu301=) rs2130206381
NM_001001557.4(GDF6):c.914C>A (p.Pro305Gln)
NM_001001557.4(GDF6):c.915G>A (p.Pro305=) rs1399835264
NM_001001557.4(GDF6):c.915G>C (p.Pro305=)
NM_001001557.4(GDF6):c.920C>T (p.Ala307Val)
NM_001001557.4(GDF6):c.923_928dup (p.306GA[3]) rs1224736770
NM_001001557.4(GDF6):c.931G>A (p.Gly311Arg) rs1812447441
NM_001001557.4(GDF6):c.932G>A (p.Gly311Glu)
NM_001001557.4(GDF6):c.942G>A (p.Pro314=)
NM_001001557.4(GDF6):c.946C>A (p.Pro316Thr)
NM_001001557.4(GDF6):c.950C>G (p.Ser317Trp)
NM_001001557.4(GDF6):c.950C>T (p.Ser317Leu)
NM_001001557.4(GDF6):c.951G>T (p.Ser317=)
NM_001001557.4(GDF6):c.955G>A (p.Ala319Thr) rs779322747
NM_001001557.4(GDF6):c.958C>G (p.Pro320Ala)
NM_001001557.4(GDF6):c.960G>A (p.Pro320=)
NM_001001557.4(GDF6):c.962A>G (p.Asp321Gly) rs376698111
NM_001001557.4(GDF6):c.96GTC[1] (p.Ser34del) rs141468446
NM_001001557.4(GDF6):c.980C>A (p.Pro327His) rs121909356
NM_001001557.4(GDF6):c.995G>A (p.Arg332Gln)
NM_001001557.4(GDF6):c.995G>T (p.Arg332Leu) rs1812445302
NM_001001557.4(GDF6):c.996G>T (p.Arg332=)
NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup) rs762461479
NM_001080477.4(TENM3):c.1441G>A (p.Gly481Ser)
NM_001080477.4(TENM3):c.1558C>T (p.Arg520Ter) rs919662130
NM_001080477.4(TENM3):c.2083dup (p.Thr695fs) rs587776950
NM_001080477.4(TENM3):c.2279G>A (p.Trp760Ter) rs2152678398
NM_001080477.4(TENM3):c.4046C>G (p.Ala1349Gly) rs1243762658
NM_001080477.4(TENM3):c.4487G>A (p.Arg1496Gln)
NM_001080477.4(TENM3):c.4925C>T (p.Thr1642Met) rs375567039
NM_001080477.4(TENM3):c.631A>G (p.Arg211Gly)
NM_001080477.4(TENM3):c.6605C>T (p.Thr2202Met)
NM_001080477.4(TENM3):c.749+4836T>G
NM_001080477.4(TENM3):c.7964A>G (p.Lys2655Arg)
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp) rs764893806
NM_005689.4(ABCB6):c.2431C>G (p.Leu811Val) rs387906910
NM_006744.4(RBP4):c.217G>A (p.Ala73Thr) rs794726862
NM_006744.4(RBP4):c.223G>A (p.Ala75Thr) rs794726861
NM_006744.4(RBP4):c.356-25G>C rs12265684
NM_006744.4(RBP4):c.569-1G>A rs2058270689
NM_022369.4(STRA6):c.*141G>A rs2072890902
NM_022369.4(STRA6):c.*582T>C rs2072874635
NM_022369.4(STRA6):c.*72C>T rs1029459207
NM_022369.4(STRA6):c.*89T>C rs886051472
NM_022369.4(STRA6):c.-15-14G>T rs757189393
NM_022369.4(STRA6):c.-15-167G>A rs2074119629
NM_022369.4(STRA6):c.1027G>T (p.Val343Leu) rs575928531
NM_022369.4(STRA6):c.1035C>T (p.Ser345=)
NM_022369.4(STRA6):c.1079G>T (p.Trp360Leu) rs886051475
NM_022369.4(STRA6):c.113+3_113+4del rs1555457882
NM_022369.4(STRA6):c.1167-18C>T
NM_022369.4(STRA6):c.1260G>C (p.Trp420Cys) rs772736406
NM_022369.4(STRA6):c.1285G>C (p.Ala429Pro) rs2142004122
NM_022369.4(STRA6):c.1301-6T>A rs1367215268
NM_022369.4(STRA6):c.1418+10del rs377631858
NM_022369.4(STRA6):c.1418+18T>G rs2073034363
NM_022369.4(STRA6):c.1418+1_1418+3del rs751838285
NM_022369.4(STRA6):c.1419-9C>A rs1249326220
NM_022369.4(STRA6):c.147del (p.Gly50fs) rs606231125
NM_022369.4(STRA6):c.1520+14T>C rs200609080
NM_022369.4(STRA6):c.1565T>G (p.Val522Gly) rs559042530
NM_022369.4(STRA6):c.1594C>T (p.Arg532Ter) rs570214336
NM_022369.4(STRA6):c.1595G>T (p.Arg532Leu) rs2072978576
NM_022369.4(STRA6):c.1605C>A (p.Leu535=) rs141004067
NM_022369.4(STRA6):c.160G>T (p.Ala54Ser)
NM_022369.4(STRA6):c.1676dup (p.Asp560fs) rs1567177198
NM_022369.4(STRA6):c.1678G>C (p.Asp560His) rs397514638
NM_022369.4(STRA6):c.1685-15G>A rs151148422
NM_022369.4(STRA6):c.181A>T (p.Ile61Phe) rs1287605892
NM_022369.4(STRA6):c.1841-12C>T
NM_022369.4(STRA6):c.1871T>C (p.Met624Thr) rs747368136
NM_022369.4(STRA6):c.1942A>C (p.Asn648His) rs2072902264
NM_022369.4(STRA6):c.267-1G>T rs773297007
NM_022369.4(STRA6):c.269C>T (p.Pro90Leu) rs118203961
NM_022369.4(STRA6):c.347del (p.Leu116fs) rs2073803030
NM_022369.4(STRA6):c.35_36dup (p.Gly13fs) rs1555457919
NM_022369.4(STRA6):c.386_387delinsCA (p.Leu129Pro) rs1567193252
NM_022369.4(STRA6):c.431-16T>C
NM_022369.4(STRA6):c.431-2A>G rs759933321
NM_022369.4(STRA6):c.438G>A (p.Trp146Ter) rs2073766224
NM_022369.4(STRA6):c.480T>G (p.Pro160=) rs2142051141
NM_022369.4(STRA6):c.481del (p.Leu161fs) rs2073763723
NM_022369.4(STRA6):c.498G>A (p.Thr166=)
NM_022369.4(STRA6):c.50_52delinsCC (p.Asp17fs) rs606231126
NM_022369.4(STRA6):c.527dup (p.Ser177fs) rs606231127
NM_022369.4(STRA6):c.597+6C>T rs374631703
NM_022369.4(STRA6):c.597+7G>A rs370713890
NM_022369.4(STRA6):c.608A>G (p.Tyr203Cys) rs1595848874
NM_022369.4(STRA6):c.62dup (p.Ser22fs) rs2074102664
NM_022369.4(STRA6):c.65G>C (p.Ser22Thr)
NM_022369.4(STRA6):c.785G>T (p.Ser262Ile) rs1480965495
NM_022369.4(STRA6):c.794A>T (p.His265Leu)
NM_022369.4(STRA6):c.853A>T (p.Thr285Ser) rs886051476
NM_022369.4(STRA6):c.865+7G>A rs778564650
NM_022369.4(STRA6):c.910_911delinsAA (p.Gly304Lys) rs151341424
NM_022369.4(STRA6):c.927+11C>A
NM_022369.4(STRA6):c.928-17C>T
NM_022369.4(STRA6):c.985del (p.Val329fs) rs1595838712
NM_058238.3(WNT7B):c.225C>G (p.Tyr75Ter) rs2146732713
NM_058238.3(WNT7B):c.292C>T (p.Arg98Ter) rs1569119395
NM_058238.3(WNT7B):c.562G>A (p.Gly188Ser) rs1158594747
NM_182894.3(VSX2):c.*1073G>A rs2079311122
NM_182894.3(VSX2):c.*1161C>A rs147524933
NM_182894.3(VSX2):c.*13T>G rs886050739
NM_182894.3(VSX2):c.*1585A>C rs6574170
NM_182894.3(VSX2):c.*1718T>C rs2079316744
NM_182894.3(VSX2):c.*250C>G rs144569223
NM_182894.3(VSX2):c.*602T>G rs2079307817
NM_182894.3(VSX2):c.*641C>T rs938559899
NM_182894.3(VSX2):c.*70C>T rs138760799
NM_182894.3(VSX2):c.-46G>C rs115662253
NM_182894.3(VSX2):c.-54G>A rs565838448
NM_182894.3(VSX2):c.-68G>C rs886050734
NM_182894.3(VSX2):c.306C>A (p.Ser102Arg) rs886050737
NM_182894.3(VSX2):c.370+3A>G rs2079138244
NM_182894.3(VSX2):c.533G>A (p.Arg178Gln) rs886050738
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) rs121912543
NM_182894.3(VSX2):c.649G>C (p.Ala217Pro) rs2079290458
NM_182894.3(VSX2):c.760+11G>A rs777886580
NM_182894.3(VSX2):c.777G>T (p.Ser259=) rs371707151
NM_182894.3(VSX2):c.810C>G (p.Pro270=) rs759166720
NM_182894.3(VSX2):c.874G>C (p.Ala292Pro) rs766522793
NM_182894.3(VSX2):c.921G>T (p.Ala307=) rs768286032

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