ClinVar Miner

List of variants studied for acrocallosal syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 118
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HGVS dbSNP
NM_000193.4(SHH):c.1282del (p.Ala428fs) rs1554493617
NM_198525.3(KIF7):c.*133G>T rs762353041
NM_198525.3(KIF7):c.*191T>A rs559070002
NM_198525.3(KIF7):c.*238C>T rs555507825
NM_198525.3(KIF7):c.*344T>C rs1054435
NM_198525.3(KIF7):c.*36C>T rs370152166
NM_198525.3(KIF7):c.*37G>A rs147387691
NM_198525.3(KIF7):c.*430dup rs113145397
NM_198525.3(KIF7):c.*87C>A rs886051528
NM_198525.3(KIF7):c.-52G>T rs116805116
NM_198525.3(KIF7):c.-5T>G rs62021460
NM_198525.3(KIF7):c.-75G>A rs886051545
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349
NM_198525.3(KIF7):c.1157A>T (p.His386Leu) rs886051537
NM_198525.3(KIF7):c.1164C>T (p.Gly388=) rs975756878
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087
NM_198525.3(KIF7):c.1189G>A (p.Ala397Thr) rs535621809
NM_198525.3(KIF7):c.1218C>G (p.Gly406=) rs886051536
NM_198525.3(KIF7):c.1221C>T (p.Ala407=) rs886051535
NM_198525.3(KIF7):c.1266C>G (p.Leu422=) rs8030837
NM_198525.3(KIF7):c.1290C>T (p.Pro430=) rs886051534
NM_198525.3(KIF7):c.1296G>A (p.Leu432=) rs886051533
NM_198525.3(KIF7):c.1297C>A (p.Pro433Thr) rs932033181
NM_198525.3(KIF7):c.1358C>T (p.Ala453Val) rs886051532
NM_198525.3(KIF7):c.1390A>G (p.Ile464Val) rs570856269
NM_198525.3(KIF7):c.1433G>A (p.Gly478Asp)
NM_198525.3(KIF7):c.1444-4A>G rs112333674
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065
NM_198525.3(KIF7):c.157C>T (p.Arg53Ter) rs569323391
NM_198525.3(KIF7):c.1643C>T (p.Pro548Leu)
NM_198525.3(KIF7):c.1643dup (p.Arg549fs) rs1555424684
NM_198525.3(KIF7):c.1788+13T>C rs1110060
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753
NM_198525.3(KIF7):c.1918C>T (p.Arg640Cys)
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755
NM_198525.3(KIF7):c.2060G>A (p.Arg687Gln) rs200123657
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu) rs565633539
NM_198525.3(KIF7):c.2077G>T (p.Val693Phe) rs550326630
NM_198525.3(KIF7):c.2079C>T (p.Val693=) rs113112856
NM_198525.3(KIF7):c.208G>A (p.Val70Met) rs761934745
NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln) rs149078926
NM_198525.3(KIF7):c.2131C>T (p.Arg711Trp) rs1255667027
NM_198525.3(KIF7):c.2164G>T (p.Glu722Ter) rs1555424505
NM_198525.3(KIF7):c.216G>A (p.Gln72=) rs113881220
NM_198525.3(KIF7):c.217del (p.Ala73fs) rs797044465
NM_198525.3(KIF7):c.2192-13C>T rs201251064
NM_198525.3(KIF7):c.2219A>G (p.Gln740Arg) rs147679100
NM_198525.3(KIF7):c.2235C>T (p.Ile745=) rs886051531
NM_198525.3(KIF7):c.2271C>T (p.Ala757=) rs35451920
NM_198525.3(KIF7):c.2321T>C (p.Leu774Pro) rs762864604
NM_198525.3(KIF7):c.2322C>A (p.Leu774=) rs145339415
NM_198525.3(KIF7):c.2337G>A (p.Glu779=) rs202089770
NM_198525.3(KIF7):c.2341T>C (p.Ser781Pro) rs886051530
NM_198525.3(KIF7):c.2354A>T (p.Glu785Val) rs759424882
NM_198525.3(KIF7):c.2364G>C (p.Arg788Ser) rs117123311
NM_198525.3(KIF7):c.2420C>A (p.Thr807Lys) rs757175418
NM_198525.3(KIF7):c.2420C>T (p.Thr807Met) rs757175418
NM_198525.3(KIF7):c.2421G>C (p.Thr807=) rs141497185
NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp) rs367734857
NM_198525.3(KIF7):c.2426G>A (p.Arg809Gln) rs758378987
NM_198525.3(KIF7):c.2481C>T (p.Asn827=) rs35837280
NM_198525.3(KIF7):c.2482G>A (p.Val828Met) rs143915145
NM_198525.3(KIF7):c.2593-3C>G rs774403667
NM_198525.3(KIF7):c.2599G>T (p.Glu867Ter) rs1328669185
NM_198525.3(KIF7):c.2613G>A (p.Glu871=) rs370595622
NM_198525.3(KIF7):c.2654C>T (p.Ala885Val) rs774073055
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531
NM_198525.3(KIF7):c.2735A>G (p.Lys912Arg) rs764430327
NM_198525.3(KIF7):c.2815C>T (p.Arg939Trp) rs142786336
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530
NM_198525.3(KIF7):c.2896-14G>A rs9672296
NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs) rs752248403
NM_198525.3(KIF7):c.2917C>T (p.Arg973Ter) rs202229910
NM_198525.3(KIF7):c.2944G>T (p.Glu982Ter) rs797045093
NM_198525.3(KIF7):c.294A>G (p.Ser98=) rs145049849
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949
NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter) rs387907045
NM_198525.3(KIF7):c.3012C>T (p.Arg1004=) rs61741227
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286
NM_198525.3(KIF7):c.3061C>T (p.Arg1021Cys)
NM_198525.3(KIF7):c.3112-10G>A rs370548253
NM_198525.3(KIF7):c.3112-11_3112-10insCT rs35820949
NM_198525.3(KIF7):c.3197G>A (p.Arg1066His)
NM_198525.3(KIF7):c.3252C>T (p.Leu1084=) rs77896636
NM_198525.3(KIF7):c.3331C>T (p.Arg1111Ter) rs778139192
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198525.3(KIF7):c.3456G>C (p.Gln1152His)
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=) rs138196132
NM_198525.3(KIF7):c.3517+6C>T rs74251725
NM_198525.3(KIF7):c.3518-1G>C rs1567057019
NM_198525.3(KIF7):c.3759C>G (p.Pro1253=) rs147767277
NM_198525.3(KIF7):c.376G>A (p.Glu126Lys) rs886051544
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)
NM_198525.3(KIF7):c.3893C>T (p.Ala1298Val)
NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln) rs138993311
NM_198525.3(KIF7):c.3957G>T (p.Gly1319=) rs886051529
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=) rs141028210
NM_198525.3(KIF7):c.3968A>G (p.Lys1323Arg) rs537735484
NM_198525.3(KIF7):c.3999G>C (p.Pro1333=) rs137993810
NM_198525.3(KIF7):c.405C>A (p.Asp135Glu) rs886051543
NM_198525.3(KIF7):c.418C>T (p.Leu140=) rs756117745
NM_198525.3(KIF7):c.423_428del (p.His142_Val143del) rs1555425036
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736
NM_198525.3(KIF7):c.460C>T (p.Arg154Ter) rs387907044
NM_198525.3(KIF7):c.461G>A (p.Arg154Gln) rs180758272
NM_198525.3(KIF7):c.587dup (p.Glu197fs) rs797044463
NM_198525.3(KIF7):c.619G>A (p.Ala207Thr) rs886051542
NM_198525.3(KIF7):c.623C>T (p.Thr208Met) rs886051541
NM_198525.3(KIF7):c.643A>G (p.Ser215Gly) rs886051540
NM_198525.3(KIF7):c.67C>T (p.Arg23Ter) rs1235928535
NM_198525.3(KIF7):c.687del (p.Arg230fs) rs797044464
NM_198525.3(KIF7):c.719C>T (p.Pro240Leu) rs886051539
NM_198525.3(KIF7):c.811del (p.Glu271fs) rs797044466
NM_198525.3(KIF7):c.924-14C>T rs573998309
NM_198525.3(KIF7):c.952G>A (p.Ala318Thr) rs756368261
NM_198525.3(KIF7):c.960G>A (p.Thr320=) rs886051538

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