ClinVar Miner

List of variants reported as uncertain significance for Matthew-Wood syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
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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_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.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_182894.3(VSX2):c.244G>A (p.Gly82Arg) rs375294678 0.00021
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_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.366C>T (p.Asp122=) rs147428518 0.00007
NM_182894.3(VSX2):c.455+3G>T rs374857946 0.00007
NM_022369.4(STRA6):c.*381C>T rs544748271 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.*1537G>A rs149197006 0.00005
NM_182894.3(VSX2):c.504C>T (p.Asn168=) rs550984628 0.00005
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_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_022369.4(STRA6):c.720+15C>T rs760855615 0.00002
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
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.1079G>T (p.Trp360Leu) rs886051475
NM_022369.4(STRA6):c.1260G>C (p.Trp420Cys) rs772736406
NM_022369.4(STRA6):c.1520+14T>C rs200609080
NM_022369.4(STRA6):c.1565T>G (p.Val522Gly) rs559042530
NM_022369.4(STRA6):c.181A>T (p.Ile61Phe) rs1287605892
NM_022369.4(STRA6):c.597+7G>A rs370713890
NM_022369.4(STRA6):c.608A>G (p.Tyr203Cys) rs1595848874
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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