ClinVar Miner

List of variants reported as uncertain significance for Matthew-Wood syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 324
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HGVS dbSNP gnomAD frequency
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_182894.3(VSX2):c.*1311G>A rs114889622 0.00562
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_005689.4(ABCB6):c.575G>A (p.Arg192Gln) rs150221689 0.00303
NM_182894.3(VSX2):c.*962G>T rs367835329 0.00299
NM_182894.3(VSX2):c.*1565G>A rs142543750 0.00242
NM_182894.3(VSX2):c.162C>A (p.Asp54Glu) rs61747367 0.00226
NM_022369.4(STRA6):c.993G>A (p.Thr331=) rs116753967 0.00205
NM_182894.3(VSX2):c.*11G>A rs140814896 0.00193
NM_182894.3(VSX2):c.*250C>T rs144569223 0.00148
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_182894.3(VSX2):c.699C>T (p.Pro233=) rs141712104 0.00082
NM_022369.4(STRA6):c.*190C>T rs191496909 0.00079
NM_182894.3(VSX2):c.939T>A (p.Ala313=) rs372651860 0.00051
NM_022369.4(STRA6):c.388G>A (p.Ala130Thr) rs141477248 0.00045
NM_182894.3(VSX2):c.171C>G (p.Ala57=) rs201395979 0.00038
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_182894.3(VSX2):c.579G>A (p.Gln193=) rs182972044 0.00024
NM_000193.4(SHH):c.1178C>G (p.Ala393Gly) rs751239867 0.00023
NM_182894.3(VSX2):c.244G>A (p.Gly82Arg) rs375294678 0.00021
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_022369.4(STRA6):c.*324C>T rs757666088 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.878T>C (p.Met293Thr) rs762304422 0.00014
NM_022369.4(STRA6):c.1970C>T (p.Thr657Met) rs144043304 0.00013
NM_022369.4(STRA6):c.1242C>T (p.Arg414=) rs568924861 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_182894.3(VSX2):c.564G>A (p.Pro188=) rs201354547 0.00010
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.180A>G (p.Ser60=) rs186185335 0.00008
NM_022369.4(STRA6):c.653T>C (p.Phe218Ser) rs764331156 0.00008
NM_022369.4(STRA6):c.366C>T (p.Asp122=) rs147428518 0.00007
NM_182894.3(VSX2):c.455+3G>T rs374857946 0.00007
NM_001001557.4(GDF6):c.169G>C (p.Asp57His) rs397514725 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_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.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_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.40A>G (p.Ile14Val) rs773668867 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.1341G>A (p.Thr447=) rs368073018 0.00004
NM_182894.3(VSX2):c.*10C>T rs559868301 0.00004
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.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_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_001001557.4(GDF6):c.253C>T (p.Pro85Ser) rs766458579 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.964G>A (p.Ala322Thr) rs200317462 0.00002
NM_001080477.4(TENM3):c.1982A>G (p.Glu661Gly) rs766092012 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.410G>A (p.Arg137Gln) rs1387195672 0.00001
NM_001001557.4(GDF6):c.1106A>G (p.Asp369Gly) rs774573217 0.00001
NM_001001557.4(GDF6):c.1237G>A (p.Gly413Ser) rs984197099 0.00001
NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser) rs376427985 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.305A>G (p.Tyr102Cys) rs1204502085 0.00001
NM_001001557.4(GDF6):c.401G>A (p.Gly134Glu) rs966679733 0.00001
NM_001001557.4(GDF6):c.416C>T (p.Ser139Leu) rs1812463539 0.00001
NM_001001557.4(GDF6):c.554A>C (p.His185Pro) rs763275206 0.00001
NM_001001557.4(GDF6):c.647A>G (p.Asp216Gly) rs1812457627 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.82A>C (p.Ile28Leu) rs760516509 0.00001
NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu) rs761634996 0.00001
NM_001001557.4(GDF6):c.954C>T (p.Gly318=) rs1277401260 0.00001
NM_001080477.4(TENM3):c.8053G>A (p.Ala2685Thr) rs761695007 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.1300+10C>T rs940086112 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.1867T>G (p.Ser623Ala) rs781757356 0.00001
NM_022369.4(STRA6):c.741T>G (p.Ser247=) rs748339728 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.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_000965.5(RARB):c.1181A>G (p.Glu394Gly) rs2125330280
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.158-1G>A
NM_000965.5(RARB):c.224dup (p.Arg76fs) rs1695165531
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.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.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_001001557.4(GDF6):c.1001G>A (p.Arg334Gln)
NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly) rs1812445134
NM_001001557.4(GDF6):c.100T>C (p.Ser34Pro) rs2130238372
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.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.1144C>T (p.His382Tyr) rs2130205366
NM_001001557.4(GDF6):c.1145A>T (p.His382Leu)
NM_001001557.4(GDF6):c.1178C>T (p.Ser393Leu) rs926947319
NM_001001557.4(GDF6):c.119C>T (p.Thr40Ile)
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.1244C>T (p.Thr415Ile) rs1269055850
NM_001001557.4(GDF6):c.1268C>T (p.Thr423Ile) rs769886732
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.1357G>A (p.Gly453Ser) rs1178158158
NM_001001557.4(GDF6):c.136C>T (p.Arg46Cys)
NM_001001557.4(GDF6):c.158G>A (p.Arg53Gln)
NM_001001557.4(GDF6):c.184C>T (p.Arg62Trp)
NM_001001557.4(GDF6):c.209G>A (p.Arg70Gln)
NM_001001557.4(GDF6):c.212C>T (p.Pro71Leu)
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.251A>G (p.Glu84Gly)
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.283C>T (p.His95Tyr) rs2130237638
NM_001001557.4(GDF6):c.286G>C (p.Glu96Gln)
NM_001001557.4(GDF6):c.298T>C (p.Ser100Pro) rs2130237604
NM_001001557.4(GDF6):c.301A>G (p.Ile101Val)
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.332T>G (p.Leu111Arg)
NM_001001557.4(GDF6):c.348C>G (p.Ser116Arg)
NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe) rs772435568
NM_001001557.4(GDF6):c.365A>C (p.Lys122Thr) rs2130237421
NM_001001557.4(GDF6):c.377C>T (p.Thr126Met) rs536331514
NM_001001557.4(GDF6):c.413T>C (p.Leu138Pro) rs2130208544
NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro) rs1812463179
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.481C>G (p.Leu161Val) rs958381615
NM_001001557.4(GDF6):c.535C>A (p.Pro179Thr)
NM_001001557.4(GDF6):c.544G>A (p.Gly182Arg)
NM_001001557.4(GDF6):c.581C>A (p.Pro194His)
NM_001001557.4(GDF6):c.5A>G (p.Asp2Gly)
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.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.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.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.758A>G (p.Gln253Arg) rs121909355
NM_001001557.4(GDF6):c.758A>T (p.Gln253Leu) rs121909355
NM_001001557.4(GDF6):c.764C>A (p.Pro255Gln)
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.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.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.870C>A (p.Phe290Leu) 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.914C>A (p.Pro305Gln)
NM_001001557.4(GDF6):c.920C>T (p.Ala307Val)
NM_001001557.4(GDF6):c.931G>A (p.Gly311Arg) rs1812447441
NM_001001557.4(GDF6):c.932G>A (p.Gly311Glu)
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.958C>G (p.Pro320Ala)
NM_001001557.4(GDF6):c.962A>G (p.Asp321Gly) rs376698111
NM_001001557.4(GDF6):c.995G>A (p.Arg332Gln)
NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup) rs762461479
NM_001080477.4(TENM3):c.1441G>A (p.Gly481Ser)
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_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.1079G>T (p.Trp360Leu) rs886051475
NM_022369.4(STRA6):c.1260G>C (p.Trp420Cys) rs772736406
NM_022369.4(STRA6):c.1419-9C>A rs1249326220
NM_022369.4(STRA6):c.1520+14T>C rs200609080
NM_022369.4(STRA6):c.1565T>G (p.Val522Gly) rs559042530
NM_022369.4(STRA6):c.1595G>T (p.Arg532Leu) rs2072978576
NM_022369.4(STRA6):c.160G>T (p.Ala54Ser)
NM_022369.4(STRA6):c.181A>T (p.Ile61Phe) rs1287605892
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.386_387delinsCA (p.Leu129Pro) rs1567193252
NM_022369.4(STRA6):c.597+7G>A rs370713890
NM_022369.4(STRA6):c.608A>G (p.Tyr203Cys) rs1595848874
NM_022369.4(STRA6):c.65G>C (p.Ser22Thr)
NM_022369.4(STRA6):c.785G>T (p.Ser262Ile) rs1480965495
NM_022369.4(STRA6):c.853A>T (p.Thr285Ser) rs886051476
NM_022369.4(STRA6):c.865+7G>A rs778564650
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.*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.-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.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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