ClinVar Miner

List of variants reported as uncertain significance for intellectual disability-hypotonia-spasticity-sleep disorder syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met) rs117475706 0.00292
NM_020987.5(ANK3):c.9997A>T (p.Thr3333Ser) rs140183285 0.00178
NM_020987.5(ANK3):c.10688A>G (p.Glu3563Gly) rs147527383 0.00177
NM_020987.5(ANK3):c.4465C>T (p.Pro1489Ser) rs41274676 0.00152
NM_020987.5(ANK3):c.1492-12C>A rs41283530 0.00138
NM_020987.5(ANK3):c.8534G>A (p.Gly2845Glu) rs139022925 0.00126
NM_020987.5(ANK3):c.11825A>G (p.Lys3942Arg) rs148549519 0.00116
NM_020987.5(ANK3):c.9935C>T (p.Ala3312Val) rs201625904 0.00101
NM_020987.5(ANK3):c.7469C>T (p.Pro2490Leu) rs140741466 0.00073
NM_020987.5(ANK3):c.4400A>G (p.Lys1467Arg) rs139982397 0.00056
NM_020987.5(ANK3):c.11678G>C (p.Ser3893Thr) rs12260663 0.00044
NM_020987.5(ANK3):c.4889C>T (p.Ala1630Val) rs141587421 0.00040
NM_020987.5(ANK3):c.7928A>G (p.Asn2643Ser) rs139972937 0.00038
NM_020987.5(ANK3):c.6555G>T (p.Gln2185His) rs144465058 0.00036
NM_020987.5(ANK3):c.6067G>A (p.Ala2023Thr) rs146929899 0.00033
NM_020987.5(ANK3):c.5981C>T (p.Ser1994Leu) rs141251507 0.00024
NM_020987.5(ANK3):c.8573C>T (p.Ser2858Leu) rs78194762 0.00023
NM_020987.5(ANK3):c.6916A>G (p.Lys2306Glu) rs144270555 0.00022
NM_020987.5(ANK3):c.4907G>A (p.Arg1636Lys) rs188159332 0.00017
NM_020987.5(ANK3):c.12596-480C>G rs201845881 0.00014
NM_020987.5(ANK3):c.2555G>A (p.Arg852His) rs190358169 0.00014
NM_020987.5(ANK3):c.6563C>A (p.Pro2188Gln) rs190303926 0.00012
NM_020987.5(ANK3):c.3604A>G (p.Ile1202Val) rs138308296 0.00010
NM_020987.5(ANK3):c.1267G>A (p.Gly423Ser) rs139379111 0.00009
NM_020987.5(ANK3):c.2467A>G (p.Met823Val) rs180821737 0.00009
NM_020987.5(ANK3):c.3488A>G (p.Gln1163Arg) rs746416574 0.00009
NM_020987.5(ANK3):c.5422A>G (p.Ile1808Val) rs151312085 0.00009
NM_020987.5(ANK3):c.10397T>A (p.Val3466Asp) rs201398340 0.00007
NM_020987.5(ANK3):c.12143C>T (p.Ser4048Leu) rs374134328 0.00007
NM_020987.5(ANK3):c.9341T>C (p.Val3114Ala) rs181031970 0.00007
NM_020987.5(ANK3):c.9965C>T (p.Ser3322Phe) rs181680457 0.00007
NM_020987.5(ANK3):c.3970G>A (p.Val1324Ile) rs755265993 0.00006
NM_020987.5(ANK3):c.5183C>T (p.Ser1728Phe) rs759998919 0.00006
NM_020987.5(ANK3):c.671A>G (p.Asn224Ser) rs200837964 0.00006
NM_020987.5(ANK3):c.7501C>T (p.Arg2501Trp) rs759280618 0.00006
NM_020987.5(ANK3):c.13130C>T (p.Ser4377Leu) rs201169886 0.00005
NM_020987.5(ANK3):c.5768T>G (p.Val1923Gly) rs201428263 0.00004
NM_020987.5(ANK3):c.1882G>A (p.Ala628Thr) rs540939855 0.00003
NM_020987.5(ANK3):c.4723C>T (p.Arg1575Trp) rs565896400 0.00003
NM_020987.5(ANK3):c.6695G>A (p.Arg2232Gln) rs770107349 0.00003
NM_020987.5(ANK3):c.11155C>T (p.Arg3719Cys) rs532004139 0.00002
NM_020987.5(ANK3):c.3728G>A (p.Arg1243His) rs767721464 0.00002
NM_020987.5(ANK3):c.12229A>C (p.Ser4077Arg) rs778664446 0.00001
NM_020987.5(ANK3):c.13024A>C (p.Ser4342Arg) rs775338026 0.00001
NM_020987.5(ANK3):c.1361A>G (p.His454Arg) rs774827889 0.00001
NM_020987.5(ANK3):c.1491+4T>C rs765680287 0.00001
NM_020987.5(ANK3):c.1939G>A (p.Ala647Thr) rs761904426 0.00001
NM_020987.5(ANK3):c.2722G>A (p.Gly908Arg) rs944771081 0.00001
NM_020987.5(ANK3):c.3727C>T (p.Arg1243Cys) rs1589784865 0.00001
NM_020987.5(ANK3):c.4459T>C (p.Ser1487Pro) rs765827508 0.00001
NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala) rs375050420 0.00001
NM_020987.5(ANK3):c.7987G>A (p.Glu2663Lys) rs369092362 0.00001
NM_020987.5(ANK3):c.9962A>G (p.Glu3321Gly) rs140902380 0.00001
NM_020987.5(ANK3):c.10392del (p.Glu3465fs)
NM_020987.5(ANK3):c.1069A>T (p.Asn357Tyr)
NM_020987.5(ANK3):c.11543G>A (p.Gly3848Glu)
NM_020987.5(ANK3):c.11546A>G (p.Glu3849Gly)
NM_020987.5(ANK3):c.11591A>G (p.Lys3864Arg)
NM_020987.5(ANK3):c.1182T>A (p.Asn394Lys)
NM_020987.5(ANK3):c.12294C>T (p.Ala4098=)
NM_020987.5(ANK3):c.12467C>T (p.Ser4156Leu)
NM_020987.5(ANK3):c.148C>T (p.Arg50Ter) rs1064796340
NM_020987.5(ANK3):c.1495G>T (p.Asp499Tyr)
NM_020987.5(ANK3):c.1642G>A (p.Ala548Thr)
NM_020987.5(ANK3):c.1747C>A (p.Leu583Ile)
NM_020987.5(ANK3):c.1762A>G (p.Ser588Gly)
NM_020987.5(ANK3):c.2589C>T (p.Gly863=)
NM_020987.5(ANK3):c.2611G>A (p.Glu871Lys)
NM_020987.5(ANK3):c.2669A>G (p.Lys890Arg)
NM_020987.5(ANK3):c.2836G>C (p.Glu946Gln) rs2094230190
NM_020987.5(ANK3):c.2902G>C (p.Asp968His) rs730882195
NM_020987.5(ANK3):c.2911G>A (p.Asp971Asn)
NM_020987.5(ANK3):c.3218A>G (p.Lys1073Arg) rs2092116910
NM_020987.5(ANK3):c.3376A>G (p.Ile1126Val) rs1057524244
NM_020987.5(ANK3):c.3380C>T (p.Thr1127Met)
NM_020987.5(ANK3):c.3533G>T (p.Gly1178Val)
NM_020987.5(ANK3):c.3932T>C (p.Met1311Thr)
NM_020987.5(ANK3):c.3975A>C (p.Glu1325Asp)
NM_020987.5(ANK3):c.3997A>G (p.Met1333Val)
NM_020987.5(ANK3):c.4345G>T (p.Asp1449Tyr)
NM_020987.5(ANK3):c.4586C>T (p.Ser1529Phe)
NM_020987.5(ANK3):c.4766C>T (p.Pro1589Leu)
NM_020987.5(ANK3):c.569C>T (p.Ser190Leu)
NM_020987.5(ANK3):c.5773GAG[1] (p.Glu1926del) rs764632652
NM_020987.5(ANK3):c.5948A>G (p.His1983Arg)
NM_020987.5(ANK3):c.5992C>T (p.Arg1998Trp)
NM_020987.5(ANK3):c.6122T>C (p.Ile2041Thr) rs1179149288
NM_020987.5(ANK3):c.6457T>C (p.Phe2153Leu)
NM_020987.5(ANK3):c.6715C>T (p.Arg2239Cys) rs747533848
NM_020987.5(ANK3):c.7516A>G (p.Ile2506Val)
NM_020987.5(ANK3):c.7604A>G (p.His2535Arg)
NM_020987.5(ANK3):c.7954C>T (p.His2652Tyr)
NM_020987.5(ANK3):c.815T>C (p.Leu272Ser)
NM_020987.5(ANK3):c.8208A>C (p.Glu2736Asp) rs2082962014
NM_020987.5(ANK3):c.8731G>A (p.Gly2911Ser)
NM_020987.5(ANK3):c.8734T>C (p.Ser2912Pro)
NM_020987.5(ANK3):c.8894C>T (p.Ala2965Val)
NM_020987.5(ANK3):c.9035T>C (p.Ile3012Thr)
NM_020987.5(ANK3):c.9598A>G (p.Ile3200Val) rs2131970999
NM_020987.5(ANK3):c.9872A>G (p.Asp3291Gly)

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