ClinVar Miner

List of variants studied for Holoprosencephaly sequence

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 508
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HGVS dbSNP
NM_000193.3(SHH):c.468C>A (p.Ser156Arg) rs1554494372
NM_000264.3(PTCH1):c.2183C>T (p.Thr728Met) rs115556836
NM_000264.3(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275
NM_000264.3(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.4(PTCH1):c.*1066A>C rs185406054
NM_000264.4(PTCH1):c.*1075A>C rs1020973772
NM_000264.4(PTCH1):c.*1220A>G rs930382710
NM_000264.4(PTCH1):c.*1358G>A rs756098510
NM_000264.4(PTCH1):c.*1373G>C rs16909865
NM_000264.4(PTCH1):c.*1413C>G rs1057515714
NM_000264.4(PTCH1):c.*1535T>C rs112320257
NM_000264.4(PTCH1):c.*1545T>C rs113253600
NM_000264.4(PTCH1):c.*1616A>C rs73540181
NM_000264.4(PTCH1):c.*1648A>G rs1057515713
NM_000264.4(PTCH1):c.*168C>A rs769353632
NM_000264.4(PTCH1):c.*1702C>T rs115675849
NM_000264.4(PTCH1):c.*1708C>T rs146131736
NM_000264.4(PTCH1):c.*1709G>A rs73540175
NM_000264.4(PTCH1):c.*186T>G rs977327674
NM_000264.4(PTCH1):c.*1878_*1883dup rs59205702
NM_000264.4(PTCH1):c.*1882_*1883dup rs59205702
NM_000264.4(PTCH1):c.*1896T>C rs949498288
NM_000264.4(PTCH1):c.*1901_*1904delGTGT rs531572088
NM_000264.4(PTCH1):c.*1904T>C rs992648722
NM_000264.4(PTCH1):c.*1905C>G rs113213198
NM_000264.4(PTCH1):c.*2070C>G rs142942544
NM_000264.4(PTCH1):c.*2146A>G rs538345753
NM_000264.4(PTCH1):c.*2175G>A rs188061818
NM_000264.4(PTCH1):c.*2275T>A rs28380046
NM_000264.4(PTCH1):c.*2276A>T rs868749157
NM_000264.4(PTCH1):c.*2288dup rs548096592
NM_000264.4(PTCH1):c.*231T>C rs28401363
NM_000264.4(PTCH1):c.*237G>C rs28688501
NM_000264.4(PTCH1):c.*2644A>C rs773680534
NM_000264.4(PTCH1):c.*2992_*2995delTTGT rs139748418
NM_000264.4(PTCH1):c.*3030A>G rs28485160
NM_000264.4(PTCH1):c.*3080G>T rs1006981555
NM_000264.4(PTCH1):c.*3157G>A rs118174136
NM_000264.4(PTCH1):c.*3209T>C rs757611119
NM_000264.4(PTCH1):c.*3213T>C rs992312438
NM_000264.4(PTCH1):c.*3232G>T rs357565
NM_000264.4(PTCH1):c.*3272C>T rs963000528
NM_000264.4(PTCH1):c.*3337T>C rs551093780
NM_000264.4(PTCH1):c.*3341T>C rs138499623
NM_000264.4(PTCH1):c.*556G>A rs964764151
NM_000264.4(PTCH1):c.*623C>T rs776158552
NM_000264.4(PTCH1):c.*664dup rs111365480
NM_000264.4(PTCH1):c.*748_*749insACTT rs147342582
NM_000264.4(PTCH1):c.*748_*749insATTT rs1554687587
NM_000264.4(PTCH1):c.*780C>T rs75765727
NM_000264.4(PTCH1):c.*801C>T rs114243832
NM_000264.4(PTCH1):c.*851G>C rs73540186
NM_000264.4(PTCH1):c.-78G>A rs572958276
NM_000264.4(PTCH1):c.1049G>A (p.Ser350Asn) rs779294007
NM_000264.4(PTCH1):c.1074T>C (p.His358=) rs2066832
NM_000264.4(PTCH1):c.109G>C (p.Gly37Arg) rs199976372
NM_000264.4(PTCH1):c.1119C>T (p.Tyr373=) rs2066831
NM_000264.4(PTCH1):c.1120G>A (p.Glu374Lys) rs144323077
NM_000264.4(PTCH1):c.1216-6C>A rs186008764
NM_000264.4(PTCH1):c.1348-4G>A rs772826555
NM_000264.4(PTCH1):c.1476A>G (p.Gly492=) rs1057515720
NM_000264.4(PTCH1):c.1480T>G (p.Ser494Ala) rs1057515719
NM_000264.4(PTCH1):c.1503+12G>A rs368083214
NM_000264.4(PTCH1):c.1504-8T>C rs2277184
NM_000264.4(PTCH1):c.1602+15_1602+17delAAA rs528001004
NM_000264.4(PTCH1):c.1641C>T (p.Ser547=) rs2066830
NM_000264.4(PTCH1):c.1653G>A (p.Thr551=) rs766039170
NM_000264.4(PTCH1):c.1665T>C (p.Asn555=) rs1805155
NM_000264.4(PTCH1):c.1686C>T (p.Ala562=) rs2066836
NM_000264.4(PTCH1):c.1710G>T (p.Leu570=) rs374924167
NM_000264.4(PTCH1):c.1808G>A (p.Arg603His) rs199523893
NM_000264.4(PTCH1):c.1847+14C>T rs202007968
NM_000264.4(PTCH1):c.1854C>T (p.Cys618=) rs62637628
NM_000264.4(PTCH1):c.2184G>A (p.Thr728=) rs201103723
NM_000264.4(PTCH1):c.2199A>G (p.Ser733=) rs2227970
NM_000264.4(PTCH1):c.2270T>C (p.Phe757Ser) rs547954117
NM_000264.4(PTCH1):c.2304C>T (p.Thr768=) rs1805156
NM_000264.4(PTCH1):c.2460C>T (p.Tyr820=) rs766227557
NM_000264.4(PTCH1):c.2484C>T (p.Asn828=) rs143305989
NM_000264.4(PTCH1):c.2560+11G>A rs774494594
NM_000264.4(PTCH1):c.2560+9G>C rs2066829
NM_000264.4(PTCH1):c.2678G>A (p.Arg893His) rs138154222
NM_000264.4(PTCH1):c.2692G>A (p.Asp898Asn) rs531947455
NM_000264.4(PTCH1):c.2787C>T (p.Asn929=) rs145196322
NM_000264.4(PTCH1):c.2887+10G>A rs202081420
NM_000264.4(PTCH1):c.2913T>C (p.Tyr971=) rs2229062
NM_000264.4(PTCH1):c.2937C>T (p.Asn979=) rs58629309
NM_000264.4(PTCH1):c.3141T>G (p.Leu1047=) rs2066835
NM_000264.4(PTCH1):c.318C>T (p.Leu106=) rs1805153
NM_000264.4(PTCH1):c.3387C>T (p.Gly1129=) rs28446339
NM_000264.4(PTCH1):c.3423G>A (p.Ala1141=) rs745948150
NM_000264.4(PTCH1):c.3567C>T (p.Gly1189=) rs62637630
NM_000264.4(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405
NM_000264.4(PTCH1):c.3606C>T (p.Pro1202=) rs138240178
NM_000264.4(PTCH1):c.3692T>C (p.Val1231Ala) rs182045135
NM_000264.4(PTCH1):c.3765C>A (p.Ile1255=) rs758229027
NM_000264.4(PTCH1):c.37C>G (p.Arg13Gly) rs779791579
NM_000264.4(PTCH1):c.3805-9C>T rs2236404
NM_000264.4(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968
NM_000264.4(PTCH1):c.3907C>T (p.Arg1303Cys) rs56102979
NM_000264.4(PTCH1):c.3955C>T (p.Arg1319Cys) rs375998275
NM_000264.4(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952
NM_000264.4(PTCH1):c.4033C>T (p.Arg1345Cys) rs556901417
NM_000264.4(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000264.4(PTCH1):c.4128C>T (p.Ser1376=) rs142148876
NM_000264.4(PTCH1):c.4152G>A (p.Pro1384=) rs761887390
NM_000264.4(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326
NM_000264.4(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271
NM_000264.4(PTCH1):c.46G>A (p.Gly16Ser) rs1057515721
NM_000264.4(PTCH1):c.735A>G (p.Thr245=) rs1805154
NM_001265612.1(CNOT1):c.1603C>T (p.Arg535Cys)
NM_003244.3(TGIF1):c.-33C>A rs238132
NM_003244.3(TGIF1):c.123C>T (p.Asn41=) rs138292737
NM_003244.3(TGIF1):c.420A>G (p.Pro140=) rs2229337
NM_003244.3(TGIF1):c.487C>T (p.Pro163Ser) rs4468717
NM_003244.3(TGIF1):c.488C>T (p.Pro163Leu) rs2229333
NM_003244.3(TGIF1):c.576C>T (p.Val192=) rs2229335
NM_003244.3(TGIF1):c.657T>G (p.Thr219=) rs2229336
NM_003923.2(FOXH1):c.*172C>G rs148389554
NM_003923.2(FOXH1):c.*20A>G rs2721176
NM_003923.2(FOXH1):c.*237_*239delGAG rs550365735
NM_003923.2(FOXH1):c.*23C>T rs541830947
NM_003923.2(FOXH1):c.*311C>T rs74360910
NM_003923.2(FOXH1):c.*451C>T rs886062751
NM_003923.2(FOXH1):c.*472G>T rs576710211
NM_003923.2(FOXH1):c.*55C>T rs192907579
NM_003923.2(FOXH1):c.*74G>A rs562738425
NM_003923.2(FOXH1):c.-136delC rs569877410
NM_003923.2(FOXH1):c.-206C>T rs886062756
NM_003923.2(FOXH1):c.-280G>A rs886062757
NM_003923.2(FOXH1):c.-314T>G rs750472
NM_003923.2(FOXH1):c.-333T>C rs147276162
NM_003923.2(FOXH1):c.-446T>C rs886062758
NM_003923.2(FOXH1):c.-506G>A rs886062759
NM_003923.2(FOXH1):c.-54C>T rs187197849
NM_003923.2(FOXH1):c.1024G>A (p.Asp342Asn) rs536501327
NM_003923.2(FOXH1):c.1049A>G (p.Asp350Gly) rs138792321
NM_003923.2(FOXH1):c.1077G>A (p.Leu359=) rs7833404
NM_003923.2(FOXH1):c.15C>T (p.Ser5=) rs374587860
NM_003923.2(FOXH1):c.260C>G (p.Ser87Cys) rs886062755
NM_003923.2(FOXH1):c.266G>A (p.Arg89Gln) rs755573914
NM_003923.2(FOXH1):c.282G>A (p.Val94=) rs1475464539
NM_003923.2(FOXH1):c.334G>A (p.Val112Met)
NM_003923.2(FOXH1):c.338G>C (p.Ser113Thr) rs144830740
NM_003923.2(FOXH1):c.361C>A (p.Arg121=) rs371301968
NM_003923.2(FOXH1):c.363G>C (p.Arg121=) rs80356380
NM_003923.2(FOXH1):c.373A>T (p.Thr125Ser) rs112028242
NM_003923.2(FOXH1):c.386G>A (p.Arg129Gln)
NM_003923.2(FOXH1):c.389G>A (p.Arg130His) rs886062754
NM_003923.2(FOXH1):c.442G>A (p.Val148Met) rs886062753
NM_003923.2(FOXH1):c.450C>T (p.His150=) rs2721177
NM_003923.2(FOXH1):c.47C>T (p.Ser16Leu) rs180724802
NM_003923.2(FOXH1):c.577C>A (p.Pro193Thr) rs778695747
NM_003923.2(FOXH1):c.58C>T (p.Pro20Ser) rs778783647
NM_003923.2(FOXH1):c.653C>T (p.Pro218Leu) rs770944195
NM_003923.2(FOXH1):c.69G>A (p.Arg23=) rs895247507
NM_003923.2(FOXH1):c.700C>T (p.Gln234Ter)
NM_003923.2(FOXH1):c.746C>T (p.Ala249Val)
NM_003923.2(FOXH1):c.771C>A (p.Gly257=) rs115750264
NM_003923.2(FOXH1):c.771C>T (p.Gly257=) rs115750264
NM_003923.2(FOXH1):c.783T>C (p.Pro261=) rs151147114
NM_003923.2(FOXH1):c.785G>T (p.Gly262Val) rs886062752
NM_003923.2(FOXH1):c.794C>A (p.Ser265Tyr) rs769660425
NM_003923.2(FOXH1):c.912G>A (p.Pro304=) rs141411287
NM_003923.2(FOXH1):c.933G>C (p.Trp311Cys) rs140090667
NM_003923.2(FOXH1):c.974G>A (p.Cys325Tyr)
NM_003923.2(FOXH1):c.984C>G (p.Asp328Glu) rs117754060
NM_005270.4(GLI2):c.*1029C>T rs182760827
NM_005270.4(GLI2):c.*1147_*1148delAT rs199943079
NM_005270.4(GLI2):c.*118C>T rs190824141
NM_005270.4(GLI2):c.*1330_*1331insCTACAC rs886054822
NM_005270.4(GLI2):c.*1331_*1332insCACACA rs1349034466
NM_005270.4(GLI2):c.*1332T>C rs150397467
NM_005270.4(GLI2):c.*1369_*1376dupACACACAC rs59277032
NM_005270.4(GLI2):c.*1371_*1376delACACAC rs59277032
NM_005270.4(GLI2):c.*1371_*1376dupACACAC rs59277032
NM_005270.4(GLI2):c.*1373_*1376delACAC rs59277032
NM_005270.4(GLI2):c.*1373_*1376dupACAC rs59277032
NM_005270.4(GLI2):c.*1375A>C rs200730065
NM_005270.4(GLI2):c.*1375_*1376delAC rs59277032
NM_005270.4(GLI2):c.*1375_*1376dupAC rs59277032
NM_005270.4(GLI2):c.*1376_*1377insACACCCC rs1553480327
NM_005270.4(GLI2):c.*1376_*1377insACCC rs1553480327
NM_005270.4(GLI2):c.*1376_*1377insACCCCC rs1553480327
NM_005270.4(GLI2):c.*1376_*1379dupCCCC rs1553480328
NM_005270.4(GLI2):c.*1628G>T rs886054827
NM_005270.4(GLI2):c.*1785A>G rs150539352
NM_005270.4(GLI2):c.*1819T>C rs754885960
NM_005270.4(GLI2):c.*1826T>G rs139459477
NM_005270.4(GLI2):c.*1837_*1840dupATCT rs558203417
NM_005270.4(GLI2):c.*1888T>G rs747928542
NM_005270.4(GLI2):c.*1895G>A rs76865566
NM_005270.4(GLI2):c.*31G>A rs377195281
NM_005270.4(GLI2):c.*378A>G rs886054820
NM_005270.4(GLI2):c.*419C>T rs370777016
NM_005270.4(GLI2):c.*42C>T rs185228238
NM_005270.4(GLI2):c.*569T>A rs75544832
NM_005270.4(GLI2):c.*816G>C rs2278741
NM_005270.4(GLI2):c.*81_*82delTT rs886054819
NM_005270.4(GLI2):c.*963A>T rs191669588
NM_005270.4(GLI2):c.-1G>C rs369138377
NM_005270.4(GLI2):c.-7G>A rs112131051
NM_005270.4(GLI2):c.1173G>A (p.Ala391=) rs144819008
NM_005270.4(GLI2):c.1294G>A (p.Val432Met) rs142296407
NM_005270.4(GLI2):c.1368+6C>G rs200971419
NM_005270.4(GLI2):c.148+14C>T rs190309269
NM_005270.4(GLI2):c.148+15G>A rs182618064
NM_005270.4(GLI2):c.148+5T>C rs201273354
NM_005270.4(GLI2):c.1684-7T>A rs532360271
NM_005270.4(GLI2):c.1761G>A (p.Thr587=) rs61732852
NM_005270.4(GLI2):c.1802A>G (p.Asn601Ser) rs61732851
NM_005270.4(GLI2):c.1806C>T (p.Asp602=) rs139202322
NM_005270.4(GLI2):c.1859C>T (p.Thr620Met) rs142775128
NM_005270.4(GLI2):c.1869C>A (p.Gly623=) rs61732850
NM_005270.4(GLI2):c.1941G>A (p.Lys647=) rs565184396
NM_005270.4(GLI2):c.1944C>T (p.Thr648=) rs13008360
NM_005270.4(GLI2):c.1968C>T (p.Ser656=) rs377642084
NM_005270.4(GLI2):c.1986G>A (p.Ser662=) rs114259687
NM_005270.4(GLI2):c.2088A>G (p.Ala696=) rs146059306
NM_005270.4(GLI2):c.2113G>A (p.Asp705Asn) rs751513015
NM_005270.4(GLI2):c.220C>T (p.His74Tyr) rs201945889
NM_005270.4(GLI2):c.2250T>G (p.Thr750=) rs146909860
NM_005270.4(GLI2):c.2318G>A (p.Gly773Asp) rs886054812
NM_005270.4(GLI2):c.2446G>T (p.Ala816Ser) rs767780220
NM_005270.4(GLI2):c.244G>A (p.Gly82Ser) rs531807595
NM_005270.4(GLI2):c.252C>T (p.His84=) rs201412339
NM_005270.4(GLI2):c.2649G>A (p.Pro883=) rs772224406
NM_005270.4(GLI2):c.2708C>G (p.Thr903Ser) rs572826436
NM_005270.4(GLI2):c.2741G>A (p.Arg914Gln) rs886054813
NM_005270.4(GLI2):c.2916T>A (p.Pro972=) rs747247646
NM_005270.4(GLI2):c.2940C>T (p.Ser980=) rs146811565
NM_005270.4(GLI2):c.3006C>G (p.Ala1002=) rs886054814
NM_005270.4(GLI2):c.3018C>T (p.Gly1006=) rs373880077
NM_005270.4(GLI2):c.3048C>T (p.Asp1016=) rs140479803
NM_005270.4(GLI2):c.31G>A (p.Glu11Lys) rs574656730
NM_005270.4(GLI2):c.3237C>T (p.Asp1079=) rs769533860
NM_005270.4(GLI2):c.3279C>T (p.Phe1093=) rs886054815
NM_005270.4(GLI2):c.3349G>T (p.Val1117Leu) rs147580961
NM_005270.4(GLI2):c.3460G>A (p.Val1154Ile) rs200999705
NM_005270.4(GLI2):c.3466G>T (p.Ala1156Ser) rs3738880
NM_005270.4(GLI2):c.3467C>T (p.Ala1156Val) rs886054816
NM_005270.4(GLI2):c.3469C>T (p.Leu1157=) rs141988240
NM_005270.4(GLI2):c.3590G>A (p.Gly1197Asp) rs114823319
NM_005270.4(GLI2):c.3647T>A (p.Ile1216Asn) rs886054817
NM_005270.4(GLI2):c.3698A>G (p.Gln1233Arg) rs377503122
NM_005270.4(GLI2):c.3882G>A (p.Thr1294=) rs115052795
NM_005270.4(GLI2):c.3916G>A (p.Asp1306Asn) rs12711538
NM_005270.4(GLI2):c.3937C>A (p.Pro1313Thr) rs767845340
NM_005270.4(GLI2):c.3939A>G (p.Pro1313=) rs10167980
NM_005270.4(GLI2):c.3943C>T (p.Pro1315Ser) rs114376238
NM_005270.4(GLI2):c.4030C>T (p.Leu1344=) rs149290823
NM_005270.4(GLI2):c.4054A>G (p.Met1352Val) rs149140724
NM_005270.4(GLI2):c.4065A>G (p.Gln1355=) rs374113689
NM_005270.4(GLI2):c.4207A>G (p.Met1403Val) rs577126364
NM_005270.4(GLI2):c.4221G>A (p.Pro1407=) rs200149538
NM_005270.4(GLI2):c.4259C>G (p.Ala1420Gly) rs370136073
NM_005270.4(GLI2):c.4306G>A (p.Ala1436Thr) rs376388820
NM_005270.4(GLI2):c.4332G>A (p.Met1444Ile) rs146467786
NM_005270.4(GLI2):c.4333C>T (p.Leu1445Phe) rs146207623
NM_005270.4(GLI2):c.4344C>T (p.Tyr1448=) rs374166743
NM_005270.4(GLI2):c.4358T>C (p.Met1453Thr) rs886054818
NM_005270.4(GLI2):c.4497T>C (p.Thr1499=) rs151090814
NM_005270.4(GLI2):c.4558G>A (p.Asp1520Asn) rs114814747
NM_005270.4(GLI2):c.4663T>C (p.Ser1555Pro) rs144372453
NM_005270.4(GLI2):c.595G>A (p.Gly199Ser) rs542892514
NM_005270.4(GLI2):c.720C>T (p.Asp240=) rs142793481
NM_005270.4(GLI2):c.801G>A (p.Ser267=) rs2592595
NM_005270.4(GLI2):c.845+10G>A rs199673018
NM_005270.4(GLI2):c.963C>G (p.Pro321=) rs149894186
NM_005618.3(DLL1):c.1802_1804delACA (p.Asp601_Ile602delinsVal) rs573197356
NM_016952.4(CDON):c.*1016C>T rs545234191
NM_016952.4(CDON):c.*1061T>C rs114455813
NM_016952.4(CDON):c.*1151C>T rs780047854
NM_016952.4(CDON):c.*1211A>G rs886047973
NM_016952.4(CDON):c.*1216G>A rs757413144
NM_016952.4(CDON):c.*12C>T rs200595011
NM_016952.4(CDON):c.*1307T>G rs539481575
NM_016952.4(CDON):c.*1310dupT rs886047972
NM_016952.4(CDON):c.*1319_*1322delGTTT rs567351832
NM_016952.4(CDON):c.*1327T>G rs886047971
NM_016952.4(CDON):c.*1332T>G rs77555036
NM_016952.4(CDON):c.*140A>G rs3737336
NM_016952.4(CDON):c.*1429C>T rs886047970
NM_016952.4(CDON):c.*1506dupA rs886047969
NM_016952.4(CDON):c.*1508A>G rs886047968
NM_016952.4(CDON):c.*1517G>T rs886047967
NM_016952.4(CDON):c.*1572A>G rs367911589
NM_016952.4(CDON):c.*1589G>A rs867218141
NM_016952.4(CDON):c.*1661C>T rs192397582
NM_016952.4(CDON):c.*1736C>T rs886047966
NM_016952.4(CDON):c.*1745A>G rs886047965
NM_016952.4(CDON):c.*1800A>G rs886047964
NM_016952.4(CDON):c.*1803C>T rs886047963
NM_016952.4(CDON):c.*1816C>T rs776338493
NM_016952.4(CDON):c.*1933A>G rs2509616
NM_016952.4(CDON):c.*2003C>G rs73019373
NM_016952.4(CDON):c.*2097G>A rs76179044
NM_016952.4(CDON):c.*2101A>G rs886047962
NM_016952.4(CDON):c.*215C>T rs879027869
NM_016952.4(CDON):c.*2195G>A rs886047961
NM_016952.4(CDON):c.*2264C>T rs185017679
NM_016952.4(CDON):c.*2283_*2285delCTT rs879891676
NM_016952.4(CDON):c.*2291T>C rs192250689
NM_016952.4(CDON):c.*2345_*2349delTATAAinsAACACACACAC rs886047960
NM_016952.4(CDON):c.*2345_*2349delTATAAinsAACACACACACAC rs886047960
NM_016952.4(CDON):c.*2369_*2376dupCACACACA rs35654681
NM_016952.4(CDON):c.*2371_*2376dupCACACA rs35654681
NM_016952.4(CDON):c.*2373C>T rs371492744
NM_016952.4(CDON):c.*2373_*2378delCACATA rs886047957
NM_016952.4(CDON):c.*2375_*2376delCA rs35654681
NM_016952.4(CDON):c.*2375_*2376dupCA rs35654681
NM_016952.4(CDON):c.*2376_*2377insCACACACACACACACATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACACACACATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACACACATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACACACATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACACATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACACATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACATATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACATATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCATATA rs371911236
NM_016952.4(CDON):c.*2377T>C rs582224
NM_016952.4(CDON):c.*2377_*2379delTATinsCACACACACAC rs886047956
NM_016952.4(CDON):c.*2377_*2379delTATinsCACACACACACACAC rs886047956
NM_016952.4(CDON):c.*2377delTinsCACACACACACACAC rs886047958
NM_016952.4(CDON):c.*2377delTinsCACACACACACACACAC rs886047958
NM_016952.4(CDON):c.*2378_*2379insCA rs886047955
NM_016952.4(CDON):c.*2378_*2379insCACACA rs886047955
NM_016952.4(CDON):c.*2378_*2379insCACACACACACA rs886047955
NM_016952.4(CDON):c.*2379T>C rs562083604
NM_016952.4(CDON):c.*2380_*2381insCA rs886047954
NM_016952.4(CDON):c.*2380_*2381insCACA rs886047954
NM_016952.4(CDON):c.*2380_*2381insCACACA rs886047954
NM_016952.4(CDON):c.*2380_*2381insCACACACACA rs886047954
NM_016952.4(CDON):c.*2389_*2394dupTATATA rs140500280
NM_016952.4(CDON):c.*2393_*2394dupTA rs140500280
NM_016952.4(CDON):c.*249G>A rs886047975
NM_016952.4(CDON):c.*2573G>A rs115327518
NM_016952.4(CDON):c.*2580G>C rs886047952
NM_016952.4(CDON):c.*2640A>G rs886047951
NM_016952.4(CDON):c.*2698T>C rs886047950
NM_016952.4(CDON):c.*2705C>T rs549903425
NM_016952.4(CDON):c.*2717C>T rs12294553
NM_016952.4(CDON):c.*2734G>A rs12294405
NM_016952.4(CDON):c.*2740T>C rs2186754
NM_016952.4(CDON):c.*2749C>G rs76176354
NM_016952.4(CDON):c.*2769G>A rs886047949
NM_016952.4(CDON):c.*278T>C rs73628538
NM_016952.4(CDON):c.*2830A>G rs1065398
NM_016952.4(CDON):c.*2992T>C rs116579152
NM_016952.4(CDON):c.*3076T>A rs73019370
NM_016952.4(CDON):c.*3104T>C rs886047948
NM_016952.4(CDON):c.*3133A>T rs886047947
NM_016952.4(CDON):c.*3141A>G rs191432564
NM_016952.4(CDON):c.*3176C>G rs187258536
NM_016952.4(CDON):c.*3210A>G rs886047946
NM_016952.4(CDON):c.*3221A>G rs539903009
NM_016952.4(CDON):c.*3409T>G rs141160538
NM_016952.4(CDON):c.*3424T>C rs147791703
NM_016952.4(CDON):c.*3481C>T rs886047945
NM_016952.4(CDON):c.*3490T>C rs11220285
NM_016952.4(CDON):c.*3522_*3523delCT rs886047944
NM_016952.4(CDON):c.*3610C>T rs886047943
NM_016952.4(CDON):c.*3628C>G rs140783947
NM_016952.4(CDON):c.*369G>A rs147808410
NM_016952.4(CDON):c.*3765C>T rs1047070
NM_016952.4(CDON):c.*3830G>A rs116746244
NM_016952.4(CDON):c.*3862G>T rs73019367
NM_016952.4(CDON):c.*3884T>G rs13424
NM_016952.4(CDON):c.*3916G>A rs886047942
NM_016952.4(CDON):c.*3919T>C rs61917811
NM_016952.4(CDON):c.*3972C>G rs142923654
NM_016952.4(CDON):c.*4052C>T rs3039
NM_016952.4(CDON):c.*4080G>A rs79685272
NM_016952.4(CDON):c.*4097A>G rs886047941
NM_016952.4(CDON):c.*4135C>T rs4937076
NM_016952.4(CDON):c.*589C>T rs565527208
NM_016952.4(CDON):c.*601T>A rs549303080
NM_016952.4(CDON):c.*609dupA rs111312273
NM_016952.4(CDON):c.*696T>C rs566390376
NM_016952.4(CDON):c.*863C>T rs886047974
NM_016952.4(CDON):c.*864G>A rs144806373
NM_016952.4(CDON):c.*871C>T rs148777681
NM_016952.4(CDON):c.*897T>C rs563620294
NM_016952.4(CDON):c.*911T>C rs369720108
NM_016952.4(CDON):c.*916G>A rs79576369
NM_016952.4(CDON):c.*983A>G rs76724574
NM_016952.4(CDON):c.-131G>A rs79446614
NM_016952.4(CDON):c.-48G>A rs374433009
NM_016952.4(CDON):c.-51A>C rs11822173
NM_016952.4(CDON):c.-57C>T rs11829014
NM_016952.4(CDON):c.-61-15delC rs886047980
NM_016952.4(CDON):c.-61-9_-61-7delCTT rs557544550
NM_016952.4(CDON):c.1000G>C (p.Asp334His) rs571859031
NM_016952.4(CDON):c.1051C>G (p.Pro351Ala) rs35665264
NM_016952.4(CDON):c.1253A>T (p.Asp418Val) rs753627841
NM_016952.4(CDON):c.1296G>A (p.Pro432=) rs11220313
NM_016952.4(CDON):c.1414C>G (p.Pro472Ala) rs750020763
NM_016952.4(CDON):c.1500C>T (p.Cys500=) rs142388716
NM_016952.4(CDON):c.1553-11_1553-8delTCTC rs762936563
NM_016952.4(CDON):c.1603G>A (p.Ala535Thr) rs76247998
NM_016952.4(CDON):c.1654A>G (p.Ser552Gly) rs886047977
NM_016952.4(CDON):c.1665G>A (p.Pro555=) rs537471531
NM_016952.4(CDON):c.1671G>A (p.Lys557=) rs35884952
NM_016952.4(CDON):c.1741A>G (p.Ile581Val) rs141782811
NM_016952.4(CDON):c.1818G>T (p.Leu606=) rs147925363
NM_016952.4(CDON):c.1826A>G (p.Asn609Ser) rs756054017
NM_016952.4(CDON):c.1847G>A (p.Arg616Gln) rs144938780
NM_016952.4(CDON):c.1851+14G>A rs113328989
NM_016952.4(CDON):c.1855G>C (p.Asp619His) rs141081456
NM_016952.4(CDON):c.1889C>T (p.Thr630Met) rs559379897
NM_016952.4(CDON):c.1940C>T (p.Pro647Leu) rs200961603
NM_016952.4(CDON):c.1977C>T (p.Ser659=) rs563267429
NM_016952.4(CDON):c.197A>G (p.Lys66Arg) rs7122277
NM_016952.4(CDON):c.2026+15C>T rs143813933
NM_016952.4(CDON):c.2037G>A (p.Ala679=) rs516664
NM_016952.4(CDON):c.2051C>G (p.Thr684Ser) rs145983470
NM_016952.4(CDON):c.2057C>T (p.Ala686Val) rs12274923
NM_016952.4(CDON):c.2159-14G>A rs752818698
NM_016952.4(CDON):c.2159-8G>A rs759480175
NM_016952.4(CDON):c.2239G>A (p.Gly747Arg) rs745363657
NM_016952.4(CDON):c.223G>A (p.Val75Ile) rs3740912
NM_016952.4(CDON):c.2279G>A (p.Arg760Gln) rs150587299
NM_016952.4(CDON):c.2392A>G (p.Ile798Val) rs142919781
NM_016952.4(CDON):c.2429C>G (p.Ser810Cys) rs746038393
NM_016952.4(CDON):c.2462G>A (p.Arg821His) rs146660717
NM_016952.4(CDON):c.2623A>G (p.Ser875Gly) rs115533243
NM_016952.4(CDON):c.3039C>T (p.Asn1013=) rs684805
NM_016952.4(CDON):c.3040G>A (p.Gly1014Arg) rs371732066
NM_016952.4(CDON):c.3061A>G (p.Thr1021Ala) rs762511903
NM_016952.4(CDON):c.3165T>C (p.Asn1055=) rs564214
NM_016952.4(CDON):c.3190A>G (p.Ser1064Gly) rs143111106
NM_016952.4(CDON):c.3294G>A (p.Thr1098=) rs3740904
NM_016952.4(CDON):c.3297C>T (p.Ala1099=) rs770868175
NM_016952.4(CDON):c.330T>C (p.Pro110=) rs35131477
NM_016952.4(CDON):c.3312C>T (p.Asp1104=) rs886047976
NM_016952.4(CDON):c.350-13T>C rs3740910
NM_016952.4(CDON):c.350-9A>G rs367564964
NM_016952.4(CDON):c.3526G>A (p.Val1176Ile) rs78304400
NM_016952.4(CDON):c.3549C>T (p.Val1183=) rs2276061
NM_016952.4(CDON):c.3559C>T (p.Arg1187Cys) rs150174788
NM_016952.4(CDON):c.3588C>T (p.Asp1196=) rs140895899
NM_016952.4(CDON):c.3603C>A (p.Gly1201=) rs763774382
NM_016952.4(CDON):c.3662T>A (p.Ile1221Asn) rs684535
NM_016952.4(CDON):c.39T>C (p.Tyr13=) rs886047979
NM_016952.4(CDON):c.484G>A (p.Glu162Lys) rs3740909
NM_016952.4(CDON):c.640+12G>A rs4426144
NM_016952.4(CDON):c.94A>G (p.Thr32Ala) rs886047978
NM_018055.4(NODAL):c.*121C>A rs578069296
NM_018055.4(NODAL):c.*356G>A rs556853359
NM_018055.4(NODAL):c.*404T>C rs77232076
NM_018055.4(NODAL):c.*479C>T rs80138796
NM_018055.4(NODAL):c.*480G>A rs886047101
NM_018055.4(NODAL):c.*62A>T rs76889088
NM_018055.4(NODAL):c.*676C>T rs886047100
NM_018055.4(NODAL):c.*677C>T rs184218697
NM_018055.4(NODAL):c.*678G>A rs374692279
NM_018055.4(NODAL):c.*722G>C rs2279254
NM_018055.4(NODAL):c.*740T>C rs2279253
NM_018055.4(NODAL):c.*747dupA rs886047099
NM_018055.4(NODAL):c.*836G>C rs886047098
NM_018055.4(NODAL):c.*886G>A rs58468830
NM_018055.4(NODAL):c.*887C>T rs553447349
NM_018055.4(NODAL):c.-9C>T rs756480830
NM_018055.4(NODAL):c.125C>T (p.Ala42Val) rs146471900
NM_018055.4(NODAL):c.193+12C>T rs10999338
NM_018055.4(NODAL):c.203T>C (p.Val68Ala) rs886047105
NM_018055.4(NODAL):c.216C>T (p.Asn72=) rs138195571
NM_018055.4(NODAL):c.221C>T (p.Thr74Met) rs886047104
NM_018055.4(NODAL):c.280C>T (p.Arg94Trp) rs778607015
NM_018055.4(NODAL):c.281G>A (p.Arg94Gln) rs146018217
NM_018055.4(NODAL):c.357C>T (p.Pro119=) rs77151171
NM_018055.4(NODAL):c.393G>C (p.Arg131=) rs765235855
NM_018055.4(NODAL):c.417C>T (p.Val139=) rs764201898
NM_018055.4(NODAL):c.494A>G (p.His165Arg) rs1904589
NM_018055.4(NODAL):c.514C>G (p.Gln172Glu) rs886047102
NM_018055.4(NODAL):c.550C>T (p.Pro184Ser) rs752979542
NM_018055.4(NODAL):c.588C>G (p.Leu196=) rs2231959
NM_018055.4(NODAL):c.593C>A (p.Ser198Tyr) rs377663429
NM_018055.4(NODAL):c.607G>A (p.Glu203Lys) rs10999334
NM_018055.4(NODAL):c.963G>A (p.Leu321=) rs772060498
NM_023110.2(FGFR1):c.2074G>A (p.Glu692Lys) rs876661335
NM_023110.2(FGFR1):c.880G>A (p.Glu294Lys) rs528376963
NM_032890.4(DISP1):c.743C>T (p.Ala248Val) rs1029577112
NM_033163.3(FGF8):c.157-1G>A rs1554834892
NM_033163.3(FGF8):c.157G>C (p.Val53Leu) rs1554834889
NM_033163.3(FGF8):c.356C>T (p.Thr119Met) rs876661329
NM_033163.3(FGF8):c.385C>T (p.Arg129Ter) rs876661330
NM_033163.3(FGF8):c.617G>A (p.Arg206Gln) rs876661331
NM_033164.3(FGF8):c.130C>T (p.Arg44Trp) rs781205876
NM_033164.3(FGF8):c.365C>T (p.Thr122Met) rs61730334
NM_033164.3(FGF8):c.411+1G>A rs1490604080
NM_033164.3(FGF8):c.436G>T (p.Val146Phe) rs139565972
NM_033164.3(FGF8):c.464A>G (p.Asn155Ser) rs778082287
NM_033164.3(FGF8):c.526_540del (p.Arg176_Gly180del) rs1554834321
NM_033164.3(FGF8):c.86_103dup (p.Arg34_Glu35insGlyProAlaLeuGlyArg) rs762175290
NM_033254.3(BOC):c.1667G>A (p.Gly556Glu) rs1553745274
NM_173208.2(TGIF1):c.*133A>G rs886053783
NM_173208.2(TGIF1):c.*19A>G rs145621092
NM_173208.2(TGIF1):c.*274delT rs34622075
NM_173208.2(TGIF1):c.*336T>C rs886053785
NM_173208.2(TGIF1):c.*407C>G rs115682894
NM_173208.2(TGIF1):c.*441delT rs397858239
NM_173208.2(TGIF1):c.489G>A (p.Pro163=) rs2229334
NM_173208.2(TGIF1):c.573G>T (p.Ser191=) rs142737563
NM_173208.2(TGIF1):c.723G>A (p.Pro241=) rs114912664

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