ClinVar Miner

List of variants studied for campomelic dysplasia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 321
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HGVS dbSNP gnomAD frequency
NM_000346.4(SOX9):c.*23A>C rs1042667 0.36428
NM_000346.4(SOX9):c.507C>T (p.His169=) rs2229989 0.16350
NM_000346.4(SOX9):c.1113G>A (p.Ala371=) rs929651 0.01816
NM_000346.4(SOX9):c.276G>T (p.Pro92=) rs139490970 0.00312
NM_000346.4(SOX9):c.685+8G>A rs117696751 0.00205
NM_000346.4(SOX9):c.858C>A (p.Ile286=) rs149355998 0.00125
NM_000346.4(SOX9):c.1320C>T (p.Tyr440=) rs80338688 0.00095
NM_000346.4(SOX9):c.531G>A (p.Arg177=) rs144824678 0.00071
NM_000346.4(SOX9):c.686-8del rs564339518 0.00060
NM_000346.4(SOX9):c.993G>A (p.Ala331=) rs761105285 0.00045
NM_000346.4(SOX9):c.1059G>A (p.Pro353=) rs936943624 0.00043
NM_000346.4(SOX9):c.991G>A (p.Ala331Thr) rs199887368 0.00043
NM_000346.4(SOX9):c.1033C>T (p.Pro345Ser) rs768818630 0.00037
NM_000346.4(SOX9):c.1503C>T (p.Pro501=) rs139015010 0.00032
NM_000346.4(SOX9):c.42G>A (p.Gln14=) rs769605571 0.00021
NM_000346.4(SOX9):c.739C>A (p.Pro247Thr) rs566929141 0.00019
NM_000346.4(SOX9):c.987G>A (p.Ala329=) rs200484258 0.00015
NM_000346.4(SOX9):c.930C>T (p.His310=) rs138423956 0.00014
NM_000346.4(SOX9):c.1167G>A (p.Pro389=) rs147286621 0.00012
NM_000346.4(SOX9):c.711A>C (p.Pro237=) rs1305561578 0.00012
NM_000346.4(SOX9):c.591C>T (p.His197=) rs146754673 0.00011
NM_000346.4(SOX9):c.477G>A (p.Glu159=) rs369677666 0.00010
NM_000346.4(SOX9):c.717C>T (p.Thr239=) rs370713128 0.00009
NM_000346.4(SOX9):c.921G>C (p.Pro307=) rs779558292 0.00009
NM_000346.4(SOX9):c.480G>A (p.Arg160=) rs370267426 0.00007
NM_000346.4(SOX9):c.992C>T (p.Ala331Val) rs751049318 0.00007
NM_000346.4(SOX9):c.1092G>A (p.Ala364=) rs754417848 0.00006
NM_000346.4(SOX9):c.1330G>A (p.Asp444Asn) rs551719325 0.00006
NM_000346.4(SOX9):c.686-9T>C rs145818235 0.00006
NM_000346.4(SOX9):c.914G>C (p.Gly305Ala) rs143697828 0.00006
NM_000346.4(SOX9):c.654G>A (p.Met218Ile) rs747366415 0.00005
NM_000346.4(SOX9):c.1029G>A (p.Pro343=) rs747054712 0.00004
NM_000346.4(SOX9):c.187G>C (p.Glu63Gln) rs149852681 0.00004
NM_000346.4(SOX9):c.200A>G (p.Asp67Gly) rs769953292 0.00004
NM_000346.4(SOX9):c.817G>C (p.Val273Leu) rs201477430 0.00004
NM_000346.4(SOX9):c.918G>A (p.Val306=) rs367966473 0.00004
NM_000346.4(SOX9):c.287A>G (p.Asn96Ser) rs148407362 0.00003
NM_000346.4(SOX9):c.537G>A (p.Arg179=) rs368864961 0.00003
NM_000346.4(SOX9):c.920C>G (p.Pro307Arg) rs202028563 0.00003
NM_000346.4(SOX9):c.1169G>C (p.Gly390Ala) rs750284138 0.00002
NM_000346.4(SOX9):c.1197G>C (p.Thr399=) rs777943068 0.00002
NM_000346.4(SOX9):c.1510A>G (p.Thr504Ala) rs149888060 0.00002
NM_000346.4(SOX9):c.48G>A (p.Lys16=) rs1412757423 0.00002
NM_000346.4(SOX9):c.559G>C (p.Ala187Pro) rs771056492 0.00002
NM_000346.4(SOX9):c.582G>A (p.Glu194=) rs769303668 0.00002
NM_000346.4(SOX9):c.685+12C>T rs200724816 0.00002
NM_000346.4(SOX9):c.76A>G (p.Met26Val) rs575451633 0.00002
NM_000346.4(SOX9):c.924C>T (p.Ala308=) rs577872434 0.00002
NM_000346.4(SOX9):c.948G>A (p.Thr316=) rs773254646 0.00002
NM_000346.4(SOX9):c.965G>A (p.Ser322Asn) rs1239456905 0.00002
NM_000346.4(SOX9):c.1109C>T (p.Pro370Leu) rs1908199604 0.00001
NM_000346.4(SOX9):c.1137G>A (p.Ala379=) rs774701551 0.00001
NM_000346.4(SOX9):c.1178A>G (p.Gln393Arg) rs1016657347 0.00001
NM_000346.4(SOX9):c.1223G>T (p.Ser408Ile) rs1025099692 0.00001
NM_000346.4(SOX9):c.1281C>T (p.His427=) rs1233957619 0.00001
NM_000346.4(SOX9):c.1490A>G (p.His497Arg) rs759413061 0.00001
NM_000346.4(SOX9):c.1504G>A (p.Val502Ile) rs774375417 0.00001
NM_000346.4(SOX9):c.15C>T (p.Asp5=) rs768210143 0.00001
NM_000346.4(SOX9):c.173C>G (p.Pro58Arg) rs770917232 0.00001
NM_000346.4(SOX9):c.18C>T (p.Pro6=) rs780889240 0.00001
NM_000346.4(SOX9):c.432-20C>A rs753494101 0.00001
NM_000346.4(SOX9):c.447C>T (p.Ser149=) rs769838386 0.00001
NM_000346.4(SOX9):c.59G>C (p.Gly20Ala) rs1276160255 0.00001
NM_000346.4(SOX9):c.657C>T (p.Ser219=) rs777250801 0.00001
NM_000346.4(SOX9):c.685+7dup rs772013619 0.00001
NM_000346.4(SOX9):c.737A>C (p.Gln246Pro) rs773882079 0.00001
NM_000346.4(SOX9):c.787G>A (p.Gly263Ser) rs752926968 0.00001
NM_000346.4(SOX9):c.804C>A (p.Ile268=) rs1474624879 0.00001
NM_000346.4(SOX9):c.916G>T (p.Val306Leu) rs779386878 0.00001
NM_000346.4(SOX9):c.984G>A (p.Pro328=) rs762132069 0.00001
GRCh37/hg19 17q24.3(chr17:69144877-70295109)x1
NC_000017.10:g.(?_68171181)_(70120528_?)del
NC_000017.11:g.72122720_72122736del
NM_000346.4(SOX9):c.*1164del rs886053360
NM_000346.4(SOX9):c.*1167del rs886053361
NM_000346.4(SOX9):c.*1183del rs796896836
NM_000346.4(SOX9):c.*1523_*1528del rs886053362
NM_000346.4(SOX9):c.*1988_*1989del rs11448561
NM_000346.4(SOX9):c.*1989del rs11448561
NM_000346.4(SOX9):c.*1989dup rs11448561
NM_000346.4(SOX9):c.*744del rs572140615
NM_000346.4(SOX9):c.*744dup rs572140615
NM_000346.4(SOX9):c.*932_*933del rs755085270
NM_000346.4(SOX9):c.1018C>T (p.Gln340Ter) rs1339655148
NM_000346.4(SOX9):c.1023GCC[4] (p.Pro346dup) rs776337541
NM_000346.4(SOX9):c.1025C>T (p.Pro342Leu)
NM_000346.4(SOX9):c.1045C>A (p.Pro349Thr)
NM_000346.4(SOX9):c.1053G>A (p.Gln351=)
NM_000346.4(SOX9):c.1058C>A (p.Pro353Gln) rs762041707
NM_000346.4(SOX9):c.1060C>T (p.Pro354Ser)
NM_000346.4(SOX9):c.1061_1069del (p.Pro354_Pro356del) rs761585795
NM_000346.4(SOX9):c.1061_1069dup (p.Pro356_Gln357insProAlaPro)
NM_000346.4(SOX9):c.1062G>A (p.Pro354=)
NM_000346.4(SOX9):c.1062G>C (p.Pro354=)
NM_000346.4(SOX9):c.1064C>T (p.Ala355Val)
NM_000346.4(SOX9):c.1067C>T (p.Pro356Leu)
NM_000346.4(SOX9):c.1068G>A (p.Pro356=)
NM_000346.4(SOX9):c.1069C>T (p.Gln357Ter)
NM_000346.4(SOX9):c.1072_1083dup (p.Gln361_Pro362insAlaProProGln)
NM_000346.4(SOX9):c.1074G>A (p.Ala358=) rs763397660
NM_000346.4(SOX9):c.1076C>A (p.Pro359His) rs1908196558
NM_000346.4(SOX9):c.1079dup (p.Gln361fs)
NM_000346.4(SOX9):c.1080G>A (p.Pro360=)
NM_000346.4(SOX9):c.1080_1100del (p.Pro362_Gln368del) rs772713612
NM_000346.4(SOX9):c.1081C>A (p.Gln361Lys)
NM_000346.4(SOX9):c.108G>T (p.Pro36=)
NM_000346.4(SOX9):c.1096C>T (p.Pro366Ser)
NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala)
NM_000346.4(SOX9):c.1101_1121del (p.364AAPPQQP[1]) rs753262382
NM_000346.4(SOX9):c.1103dup (p.Gln369fs) rs1598176785
NM_000346.4(SOX9):c.1110G>A (p.Pro370=)
NM_000346.4(SOX9):c.1110_1130del (p.364AAPPQQP[1])
NM_000346.4(SOX9):c.1112C>T (p.Ala371Val)
NM_000346.4(SOX9):c.1116_1117del (p.Pro374fs) rs2143254357
NM_000346.4(SOX9):c.1119C>T (p.Pro373=)
NM_000346.4(SOX9):c.111G>T (p.Ser37=) rs1327415352
NM_000346.4(SOX9):c.1126C>G (p.Gln376Glu) rs2143254472
NM_000346.4(SOX9):c.1143G>A (p.Thr381=)
NM_000346.4(SOX9):c.1143G>T (p.Thr381=)
NM_000346.4(SOX9):c.1146G>T (p.Leu382=)
NM_000346.4(SOX9):c.1148_1156del (p.Thr383_Leu385del)
NM_000346.4(SOX9):c.1177C>T (p.Gln393Ter) rs1598176852
NM_000346.4(SOX9):c.1180C>T (p.Arg394Ter) rs1057518216
NM_000346.4(SOX9):c.1196C>T (p.Thr399Met)
NM_000346.4(SOX9):c.1212C>T (p.Pro404=) rs749575769
NM_000346.4(SOX9):c.1224C>T (p.Ser408=)
NM_000346.4(SOX9):c.1225G>T (p.Glu409Ter)
NM_000346.4(SOX9):c.1227GCA[5] (p.Gln412_His413insGln)
NM_000346.4(SOX9):c.1234C>T (p.Gln412Ter) rs1341243329
NM_000346.4(SOX9):c.1242G>A (p.Ser414=)
NM_000346.4(SOX9):c.124dup (p.Asp42fs) rs2143237315
NM_000346.4(SOX9):c.1255del (p.Ala419fs)
NM_000346.4(SOX9):c.1285A>G (p.Ser429Gly)
NM_000346.4(SOX9):c.1307C>G (p.Thr436Ser)
NM_000346.4(SOX9):c.1311C>T (p.Arg437=)
NM_000346.4(SOX9):c.1320C>A (p.Tyr440Ter) rs80338688
NM_000346.4(SOX9):c.1320C>G (p.Tyr440Ter) rs80338688
NM_000346.4(SOX9):c.1320_1321insCACCA (p.Asp441fs)
NM_000346.4(SOX9):c.1353C>A (p.Tyr451Ter) rs2143257122
NM_000346.4(SOX9):c.1358G>A (p.Ser453Asn)
NM_000346.4(SOX9):c.1372C>T (p.Gln458Ter) rs1555629443
NM_000346.4(SOX9):c.1381G>A (p.Gly461Ser)
NM_000346.4(SOX9):c.138G>A (p.Thr46=)
NM_000346.4(SOX9):c.1394C>G (p.Thr465Ser)
NM_000346.4(SOX9):c.1401C>A (p.Thr467=)
NM_000346.4(SOX9):c.140G>A (p.Arg47Gln)
NM_000346.4(SOX9):c.1419G>A (p.Gln473=)
NM_000346.4(SOX9):c.141G>A (p.Arg47=)
NM_000346.4(SOX9):c.1427T>C (p.Met476Thr) rs1057518669
NM_000346.4(SOX9):c.1433C>T (p.Thr478Ile) rs2143257987
NM_000346.4(SOX9):c.1435C>T (p.Pro479Ser)
NM_000346.4(SOX9):c.1437dup (p.Ile480fs)
NM_000346.4(SOX9):c.1440C>T (p.Ile480=)
NM_000346.4(SOX9):c.144C>G (p.Pro48=)
NM_000346.4(SOX9):c.1460C>T (p.Pro487Leu) rs2143258440
NM_000346.4(SOX9):c.1470G>A (p.Pro490=) rs772902383
NM_000346.4(SOX9):c.1470G>C (p.Pro490=)
NM_000346.4(SOX9):c.1482C>T (p.Ser494=) rs189130850
NM_000346.4(SOX9):c.1488G>A (p.Gln496=) rs2143258743
NM_000346.4(SOX9):c.1498C>T (p.Gln500Ter)
NM_000346.4(SOX9):c.1525C>T (p.Pro509Ser)
NM_000346.4(SOX9):c.156G>C (p.Thr52=) rs747786977
NM_000346.4(SOX9):c.15C>G (p.Asp5Glu)
NM_000346.4(SOX9):c.16C>T (p.Pro6Ser)
NM_000346.4(SOX9):c.174C>T (p.Pro58=)
NM_000346.4(SOX9):c.197_226del (p.Glu66_Glu75del)
NM_000346.4(SOX9):c.201C>G (p.Asp67Glu)
NM_000346.4(SOX9):c.218T>C (p.Ile73Thr) rs2143238589
NM_000346.4(SOX9):c.241C>G (p.Leu81Val)
NM_000346.4(SOX9):c.24G>A (p.Met8Ile)
NM_000346.4(SOX9):c.252C>G (p.Tyr84Ter) rs1555629022
NM_000346.4(SOX9):c.253G>C (p.Asp85His)
NM_000346.4(SOX9):c.255_256del (p.Asp85fs) rs2143239047
NM_000346.4(SOX9):c.268C>T (p.Pro90Ser)
NM_000346.4(SOX9):c.271_272del (p.Met91fs)
NM_000346.4(SOX9):c.273G>T (p.Met91Ile)
NM_000346.4(SOX9):c.276G>A (p.Pro92=) rs139490970
NM_000346.4(SOX9):c.281_310del (p.Arg94_Pro103del) rs1908098789
NM_000346.4(SOX9):c.313G>T (p.Val105Phe) rs2143239754
NM_000346.4(SOX9):c.326T>C (p.Met109Thr)
NM_000346.4(SOX9):c.334_335del (p.Phe112fs)
NM_000346.4(SOX9):c.336C>T (p.Phe112=)
NM_000346.4(SOX9):c.337A>G (p.Met113Val) rs2143240089
NM_000346.4(SOX9):c.337A>T (p.Met113Leu)
NM_000346.4(SOX9):c.339G>A (p.Met113Ile) rs2143240113
NM_000346.4(SOX9):c.340G>C (p.Val114Leu) rs2143240123
NM_000346.4(SOX9):c.341T>C (p.Val114Ala)
NM_000346.4(SOX9):c.346G>A (p.Ala116Thr)
NM_000346.4(SOX9):c.347C>T (p.Ala116Val) rs2143240212
NM_000346.4(SOX9):c.349C>T (p.Gln117Ter) rs1555629037
NM_000346.4(SOX9):c.356C>A (p.Ala119Glu) rs886043537
NM_000346.4(SOX9):c.359G>T (p.Arg120Leu) rs2143240394
NM_000346.4(SOX9):c.369dup (p.Ala124fs) rs2143240579
NM_000346.4(SOX9):c.372G>C (p.Ala124=) rs745780363
NM_000346.4(SOX9):c.375C>G (p.Asp125Glu)
NM_000346.4(SOX9):c.419G>A (p.Gly140Asp) rs2143241065
NM_000346.4(SOX9):c.431+12C>T
NM_000346.4(SOX9):c.431+17del
NM_000346.4(SOX9):c.431+8C>T
NM_000346.4(SOX9):c.431+9C>G
NM_000346.4(SOX9):c.431+9C>T
NM_000346.4(SOX9):c.432-10C>T
NM_000346.4(SOX9):c.432-2A>C
NM_000346.4(SOX9):c.432-2A>T rs1908139210
NM_000346.4(SOX9):c.432-6del
NM_000346.4(SOX9):c.432-7C>G
NM_000346.4(SOX9):c.434T>A (p.Leu145His)
NM_000346.4(SOX9):c.436C>A (p.Leu146Met)
NM_000346.4(SOX9):c.436C>G (p.Leu146Val) rs2143244977
NM_000346.4(SOX9):c.440A>C (p.Asn147Thr)
NM_000346.4(SOX9):c.441C>T (p.Asn147=)
NM_000346.4(SOX9):c.442G>C (p.Glu148Gln)
NM_000346.4(SOX9):c.454C>A (p.Arg152=) rs1908140265
NM_000346.4(SOX9):c.454C>G (p.Arg152Gly)
NM_000346.4(SOX9):c.455G>C (p.Arg152Pro)
NM_000346.4(SOX9):c.462C>G (p.Phe154Leu) rs137853129
NM_000346.4(SOX9):c.472G>A (p.Ala158Thr) rs137853130
NM_000346.4(SOX9):c.473C>T (p.Ala158Val) rs2143245422
NM_000346.4(SOX9):c.484C>T (p.Arg162Cys)
NM_000346.4(SOX9):c.486C>G (p.Arg162=)
NM_000346.4(SOX9):c.491A>C (p.Gln164Pro) rs1567910689
NM_000346.4(SOX9):c.502G>T (p.Asp168Tyr) rs2143245759
NM_000346.4(SOX9):c.503A>G (p.Asp168Gly) rs1908142618
NM_000346.4(SOX9):c.504C>T (p.Asp168=)
NM_000346.4(SOX9):c.507C>G (p.His169Gln) rs2229989
NM_000346.4(SOX9):c.507_508delinsTA (p.Pro170Thr)
NM_000346.4(SOX9):c.508C>A (p.Pro170Thr) rs866706988
NM_000346.4(SOX9):c.508C>G (p.Pro170Ala) rs866706988
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) rs866706988
NM_000346.4(SOX9):c.509C>G (p.Pro170Arg)
NM_000346.4(SOX9):c.515A>G (p.Tyr172Cys) rs1555629158
NM_000346.4(SOX9):c.515A>T (p.Tyr172Phe)
NM_000346.4(SOX9):c.517A>G (p.Lys173Glu) rs104894647
NM_000346.4(SOX9):c.517A>T (p.Lys173Ter) rs104894647
NM_000346.4(SOX9):c.522C>T (p.Tyr174=)
NM_000346.4(SOX9):c.527C>G (p.Pro176Arg) rs1555629170
NM_000346.4(SOX9):c.527C>T (p.Pro176Leu) rs1555629170
NM_000346.4(SOX9):c.528G>A (p.Pro176=)
NM_000346.4(SOX9):c.528G>T (p.Pro176=)
NM_000346.4(SOX9):c.529C>T (p.Arg177Trp) rs2143246033
NM_000346.4(SOX9):c.53T>C (p.Leu18Pro)
NM_000346.4(SOX9):c.546G>C (p.Val182=)
NM_000346.4(SOX9):c.555G>A (p.Gly185=)
NM_000346.4(SOX9):c.557_560del (p.Gln186fs)
NM_000346.4(SOX9):c.55T>A (p.Ser19Thr) rs1908086972
NM_000346.4(SOX9):c.56C>T (p.Ser19Phe)
NM_000346.4(SOX9):c.583C>T (p.Gln195Ter) rs1480235826
NM_000346.4(SOX9):c.592A>G (p.Ile198Val)
NM_000346.4(SOX9):c.592A>T (p.Ile198Phe)
NM_000346.4(SOX9):c.593T>A (p.Ile198Asn)
NM_000346.4(SOX9):c.596C>T (p.Ser199Phe) rs762685531
NM_000346.4(SOX9):c.600dup (p.Asn201fs) rs2143246628
NM_000346.4(SOX9):c.605C>G (p.Ala202Gly) rs2143246698
NM_000346.4(SOX9):c.607A>T (p.Ile203Phe)
NM_000346.4(SOX9):c.608T>A (p.Ile203Asn)
NM_000346.4(SOX9):c.610T>C (p.Phe204Leu)
NM_000346.4(SOX9):c.610T>G (p.Phe204Val)
NM_000346.4(SOX9):c.629A>G (p.Asp210Gly)
NM_000346.4(SOX9):c.632C>T (p.Ser211Leu)
NM_000346.4(SOX9):c.633G>A (p.Ser211=)
NM_000346.4(SOX9):c.640TCC[2] (p.Ser216del)
NM_000346.4(SOX9):c.649G>A (p.Gly217Ser)
NM_000346.4(SOX9):c.658G>A (p.Glu220Lys)
NM_000346.4(SOX9):c.672C>T (p.Pro224=)
NM_000346.4(SOX9):c.673G>A (p.Gly225Ser)
NM_000346.4(SOX9):c.676G>A (p.Glu226Lys)
NM_000346.4(SOX9):c.681C>T (p.His227=)
NM_000346.4(SOX9):c.683C>A (p.Ser228Ter)
NM_000346.4(SOX9):c.684G>T (p.Ser228=)
NM_000346.4(SOX9):c.685+1G>A
NM_000346.4(SOX9):c.685+2T>C
NM_000346.4(SOX9):c.685+4dup
NM_000346.4(SOX9):c.685+7_685+8delinsTA
NM_000346.4(SOX9):c.686-16C>T
NM_000346.4(SOX9):c.686-2A>G rs2143250007
NM_000346.4(SOX9):c.686-3C>T
NM_000346.4(SOX9):c.704C>T (p.Pro235Leu) rs984877127
NM_000346.4(SOX9):c.710dup (p.Pro238fs) rs1567911132
NM_000346.4(SOX9):c.714C>G (p.Pro238=) rs368191855
NM_000346.4(SOX9):c.736dup (p.Gln246fs) rs587776541
NM_000346.4(SOX9):c.740C>T (p.Pro247Leu)
NM_000346.4(SOX9):c.755T>C (p.Leu252Pro)
NM_000346.4(SOX9):c.760C>T (p.Arg254Ter)
NM_000346.4(SOX9):c.765G>A (p.Glu255=)
NM_000346.4(SOX9):c.772C>T (p.Pro258Ser)
NM_000346.4(SOX9):c.77T>A (p.Met26Lys)
NM_000346.4(SOX9):c.782A>C (p.Glu261Ala)
NM_000346.4(SOX9):c.783G>C (p.Glu261Asp) rs751690259
NM_000346.4(SOX9):c.785G>T (p.Gly262Val)
NM_000346.4(SOX9):c.788G>T (p.Gly263Val)
NM_000346.4(SOX9):c.788dup (p.Arg264fs) rs1274036689
NM_000346.4(SOX9):c.797C>T (p.Pro266Leu)
NM_000346.4(SOX9):c.80C>A (p.Ser27Tyr)
NM_000346.4(SOX9):c.811C>G (p.Arg271Gly)
NM_000346.4(SOX9):c.813C>A (p.Arg271=) rs1908181707
NM_000346.4(SOX9):c.816C>T (p.Asp272=)
NM_000346.4(SOX9):c.816_817insTCCGTGAC (p.Val273fs)
NM_000346.4(SOX9):c.81C>G (p.Ser27=)
NM_000346.4(SOX9):c.829G>T (p.Glu277Ter)
NM_000346.4(SOX9):c.844G>A (p.Val282Ile) rs2143251516
NM_000346.4(SOX9):c.863C>A (p.Thr288Asn)
NM_000346.4(SOX9):c.868G>C (p.Asp290His)
NM_000346.4(SOX9):c.875A>C (p.Asn292Thr)
NM_000346.4(SOX9):c.897G>C (p.Pro299=)
NM_000346.4(SOX9):c.902A>G (p.Asn301Ser)
NM_000346.4(SOX9):c.903C>T (p.Asn301=)
NM_000346.4(SOX9):c.904G>A (p.Gly302Ser)
NM_000346.4(SOX9):c.920C>T (p.Pro307Leu)
NM_000346.4(SOX9):c.935A>G (p.Gln312Arg) rs1908187199
NM_000346.4(SOX9):c.944dup (p.Tyr315Ter)
NM_000346.4(SOX9):c.947C>T (p.Thr316Met)
NM_000346.4(SOX9):c.950G>A (p.Gly317Asp)
NM_000346.4(SOX9):c.957C>G (p.Tyr319Ter) rs1324081394
NM_000346.4(SOX9):c.958G>A (p.Gly320Ser)
NM_000346.4(SOX9):c.971C>T (p.Thr324Ile)
NM_000346.4(SOX9):c.972C>T (p.Thr324=) rs994026508
NM_000346.4(SOX9):c.975G>A (p.Ala325=)
NM_000346.4(SOX9):c.989G>C (p.Ser330Thr)
NM_000346.4(SOX9):c.9C>G (p.Leu3=)
t(11;17)(p15.4;q24.3)
t(6;17)(p21.1;q24.3)

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