ClinVar Miner

List of variants reported as likely benign for Matthew-Wood syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_182894.3(VSX2):c.*1074C>T rs34263984 0.06214
NM_182894.3(VSX2):c.*670G>A rs45556237 0.03401
NM_182894.3(VSX2):c.831G>A (p.Leu277=) rs62006815 0.02860
NM_182894.3(VSX2):c.*1803A>C rs11848458 0.02759
NM_182894.3(VSX2):c.*39C>T rs117813701 0.02245
NM_182894.3(VSX2):c.*261G>T rs115396145 0.01157
NM_022369.4(STRA6):c.1416G>A (p.Ser472=) rs351241 0.00924
NM_022369.4(STRA6):c.1840+12C>T rs118056606 0.00660
NM_000193.4(SHH):c.300+17G>A rs116412905 0.00504
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_005689.4(ABCB6):c.688-9C>T rs146410593 0.00294
NM_005689.4(ABCB6):c.1361T>C (p.Val454Ala) rs61733629 0.00285
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) rs139075817 0.00217
NM_022369.4(STRA6):c.1301-12C>T rs79510426 0.00205
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_020634.3(GDF3):c.583C>T (p.Arg195Trp) rs112895783 0.00165
NM_182894.3(VSX2):c.*1212G>A rs117409214 0.00120
NM_022369.4(STRA6):c.1685-5C>G rs201730717 0.00112
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_022369.4(STRA6):c.239G>A (p.Cys80Tyr) rs180889966 0.00070
NM_022369.4(STRA6):c.973G>T (p.Val325Leu) rs202174410 0.00067
NM_022369.4(STRA6):c.145C>T (p.Pro49Ser) rs151176007 0.00056
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.902C>T (p.Thr301Ile) rs139450204 0.00040
NM_001001557.4(GDF6):c.407-3C>T rs374740957 0.00026
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.24C>G (p.Leu8=) rs369859861 0.00016
NM_001001557.4(GDF6):c.435A>G (p.Arg145=) rs369127445 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_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.1566G>T (p.Val522=) rs886051474 0.00010
NM_022369.4(STRA6):c.1668C>T (p.Ala556=) rs372149672 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.1803C>T (p.Ala601=) rs2277607 0.00008
NM_001001557.4(GDF6):c.1071G>A (p.Lys357=) rs151332138 0.00007
NM_022369.4(STRA6):c.366C>T (p.Asp122=) rs147428518 0.00007
NM_000965.5(RARB):c.264A>T (p.Ser88=) rs201295268 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_022369.4(STRA6):c.591G>A (p.Val197=) rs138499753 0.00006
NM_001001557.4(GDF6):c.186G>C (p.Arg62=) rs781205930 0.00005
NM_000965.5(RARB):c.991+10A>G rs772873447 0.00004
NM_001001557.4(GDF6):c.30C>A (p.Ala10=) rs778071820 0.00004
NM_001001557.4(GDF6):c.528C>T (p.Pro176=) rs548565578 0.00004
NM_022369.4(STRA6):c.1191A>G (p.Arg397=) rs373116551 0.00004
NM_000965.5(RARB):c.288C>T (p.Ser96=) rs138872395 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.594C>T (p.Asp198=) rs994022206 0.00003
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.546G>A (p.Gly182=) rs528471783 0.00002
NM_000965.5(RARB):c.1038A>G (p.Glu346=) rs760433691 0.00001
NM_001001557.4(GDF6):c.1140C>T (p.Ala380=) rs1266231101 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.157C>A (p.Arg53=) rs753326851 0.00001
NM_001001557.4(GDF6):c.225C>T (p.Pro75=) rs763584976 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.403C>T (p.Leu135=) rs1021290257 0.00001
NM_001001557.4(GDF6):c.407-5C>T rs758091453 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.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.675C>T (p.Pro225=) rs1199396087 0.00001
NM_001001557.4(GDF6):c.709T>C (p.Trp237Arg) rs1036909955 0.00001
NM_001001557.4(GDF6):c.885G>A (p.Glu295=) rs565004364 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_022369.4(STRA6):c.1053G>A (p.Val351=) rs753723974 0.00001
NM_022369.4(STRA6):c.1300+18G>A rs776408592 0.00001
NM_000965.5(RARB):c.158-15C>A rs374770716
NM_000965.5(RARB):c.158-7A>G
NM_000965.5(RARB):c.306+7A>G
NM_001001557.4(GDF6):c.1008G>A (p.Thr336=)
NM_001001557.4(GDF6):c.1011C>A (p.Ala337=)
NM_001001557.4(GDF6):c.1032G>A (p.Lys344=)
NM_001001557.4(GDF6):c.1038C>T (p.His346=)
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.1146C>T (p.His382=)
NM_001001557.4(GDF6):c.1173G>A (p.Leu391=) rs1812441998
NM_001001557.4(GDF6):c.1179G>T (p.Ser393=)
NM_001001557.4(GDF6):c.1194C>A (p.Thr398=) rs767633784
NM_001001557.4(GDF6):c.1212G>A (p.Gln404=)
NM_001001557.4(GDF6):c.1242C>T (p.Ser414=)
NM_001001557.4(GDF6):c.1248G>T (p.Pro416=)
NM_001001557.4(GDF6):c.1296C>T (p.Tyr432=)
NM_001001557.4(GDF6):c.1347G>A (p.Val449=)
NM_001001557.4(GDF6):c.1353G>C (p.Ser451=)
NM_001001557.4(GDF6):c.1365G>A (p.Arg455=)
NM_001001557.4(GDF6):c.1365G>T (p.Arg455Ser)
NM_001001557.4(GDF6):c.141G>A (p.Lys47=)
NM_001001557.4(GDF6):c.144A>G (p.Glu48=)
NM_001001557.4(GDF6):c.168C>G (p.Arg56=)
NM_001001557.4(GDF6):c.180G>A (p.Ala60=)
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.213T>G (p.Pro71=) rs1465598776
NM_001001557.4(GDF6):c.246G>A (p.Ala82=)
NM_001001557.4(GDF6):c.252G>A (p.Glu84=)
NM_001001557.4(GDF6):c.258A>T (p.Pro86=) rs2130237722
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.295C>T (p.Leu99=) rs746383854
NM_001001557.4(GDF6):c.306C>T (p.Tyr102=)
NM_001001557.4(GDF6):c.327G>A (p.Glu109=)
NM_001001557.4(GDF6):c.335G>C (p.Gly112Ala)
NM_001001557.4(GDF6):c.339C>T (p.Ile113=)
NM_001001557.4(GDF6):c.363C>T (p.Ser121=)
NM_001001557.4(GDF6):c.366G>A (p.Lys122=)
NM_001001557.4(GDF6):c.36C>T (p.Phe12=)
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.407-9A>G
NM_001001557.4(GDF6):c.420C>T (p.His140=) rs375769410
NM_001001557.4(GDF6):c.432G>C (p.Arg144=)
NM_001001557.4(GDF6):c.468A>G (p.Ser156=)
NM_001001557.4(GDF6):c.513G>A (p.Gln171=) rs2130208153
NM_001001557.4(GDF6):c.534G>A (p.Gly178=)
NM_001001557.4(GDF6):c.549G>T (p.Pro183=)
NM_001001557.4(GDF6):c.558G>A (p.Val186=)
NM_001001557.4(GDF6):c.598C>A (p.Arg200=)
NM_001001557.4(GDF6):c.603C>T (p.Thr201=)
NM_001001557.4(GDF6):c.604C>T (p.Leu202=) rs1175841699
NM_001001557.4(GDF6):c.612G>A (p.Pro204=) rs777541984
NM_001001557.4(GDF6):c.612G>T (p.Pro204=)
NM_001001557.4(GDF6):c.627G>A (p.Pro209=)
NM_001001557.4(GDF6):c.727G>T (p.Gly243Trp)
NM_001001557.4(GDF6):c.72G>A (p.Gln24=)
NM_001001557.4(GDF6):c.756C>T (p.Pro252=)
NM_001001557.4(GDF6):c.75G>A (p.Gln25=) rs776298591
NM_001001557.4(GDF6):c.765G>T (p.Pro255=)
NM_001001557.4(GDF6):c.774G>C (p.Pro258=) rs769581547
NM_001001557.4(GDF6):c.774G>T (p.Pro258=)
NM_001001557.4(GDF6):c.832C>T (p.Leu278=) rs2130206656
NM_001001557.4(GDF6):c.861G>A (p.Lys287=)
NM_001001557.4(GDF6):c.870C>T (p.Phe290=) rs765928590
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.915G>A (p.Pro305=) rs1399835264
NM_001001557.4(GDF6):c.915G>C (p.Pro305=)
NM_001001557.4(GDF6):c.923_928dup (p.306GA[3]) rs1224736770
NM_001001557.4(GDF6):c.942G>A (p.Pro314=)
NM_001001557.4(GDF6):c.951G>T (p.Ser317=)
NM_001001557.4(GDF6):c.955G>A (p.Ala319Thr) rs779322747
NM_001001557.4(GDF6):c.960G>A (p.Pro320=)
NM_001001557.4(GDF6):c.96GTC[1] (p.Ser34del) rs141468446
NM_001001557.4(GDF6):c.996G>T (p.Arg332=)
NM_022369.4(STRA6):c.1035C>T (p.Ser345=)
NM_022369.4(STRA6):c.1418+18T>G rs2073034363
NM_022369.4(STRA6):c.1841-12C>T
NM_022369.4(STRA6):c.480T>G (p.Pro160=) rs2142051141
NM_022369.4(STRA6):c.498G>A (p.Thr166=)
NM_022369.4(STRA6):c.597+6C>T rs374631703
NM_022369.4(STRA6):c.927+11C>A
NM_022369.4(STRA6):c.928-17C>T
NM_182894.3(VSX2):c.*1585A>C rs6574170
NM_182894.3(VSX2):c.-46G>C rs115662253

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