ClinVar Miner

List of variants reported for Primary amenorrhea by Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano

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ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NC_000001.10:g.158323371_158352947del29577
NC_000001.11:g.112796384_112887499dup
NC_000001.11:g.194043799_194353490dup
NC_000001.11:g.202057882_202124606dup
NC_000001.11:g.246005506_246528998dup
NC_000001.11:g.246924924_247245758dup
NC_000001.11:g.45650769_45929717dup
NC_000002.11:g.133725047_134126372del401326
NC_000002.11:g.159142708_159250404del107697
NC_000002.11:g.61795359_61831792del36434
NC_000002.12:g.183054447_183247902dup
NC_000002.12:g.35742924_35765778dup
NC_000003.11:g.94689602_94823543del133942
NC_000003.12:g.127814446_127916946dup
NC_000003.12:g.189709350_189867832dup
NC_000003.12:g.189709350_189870688dup
NC_000003.12:g.30872874_31319912dup
NC_000003.12:g.57686154_57804308dup
NC_000004.11:g.31744797_31975862del231066
NC_000004.12:g.90236498_90494805dup
NC_000005.10:g.160592205_161364688dup
NC_000005.10:g.69553767_71361920dup
NC_000005.9:g.112179040_112192379del13340
NC_000005.9:g.152263564_152321761del58198
NC_000005.9:g.68818173_70657747del1839575
NC_000005.9:g.69741318_70422356del681039
NC_000005.9:g.69767948_70345611del577664
NC_000005.9:g.70308101_70657747del349647
NC_000006.11:g.259528_293493del33966
NC_000006.11:g.259881_378956del119076
NC_000006.11:g.259881_389482del129602
NC_000006.11:g.279667_378956del99290
NC_000006.11:g.283968_375949del91982
NC_000006.12:g.170299941_170556913dup
NC_000006.12:g.259881_378956dup
NC_000006.12:g.299363_378956dup
NC_000006.12:g.7075305_7111311dup
NC_000007.13:g.107262480_107286241del23762
NC_000007.14:g.39960093_40104664dup
NC_000008.10:g.104306192_104334440del28249
NC_000008.10:g.13034651_13120326del85676
NC_000008.10:g.8790358_8891761del101404
NC_000008.11:g.23671119_23712463dup
NC_000008.11:g.90692712_90718088dup
NC_000009.11:g.17295644_17364986del69343
NC_000009.11:g.17298850_17357754del58905
NC_000009.11:g.24242825_24310533del67709
NC_000009.11:g.2654203_2668811del14609
NC_000009.12:g.75502958_76045032dup
NC_000010.10:g.135252327_135378761del126435
NC_000010.11:g.133438823_133565257dup
NC_000010.11:g.133468178_133564028dup
NC_000010.11:g.133468178_133565257dup
NC_000010.11:g.133468178_133591019dup
NC_000010.11:g.33846064_33943640dup
NC_000011.10:g.5433500_5475233dup
NC_000011.9:g.105126944_105347752del220809
NC_000012.12:g.42127457_42199952dup
NC_000014.8:g.54195768_54215968del20201
NC_000015.9:g.34125784_34151995del26212
NC_000015.9:g.83214012_84812693del1598682
NC_000015.9:g.89595324_89652892del57569
NC_000016.10:g.56402918_56428075dup
NC_000018.10:g.62431580_62441327del
NC_000019.10:g.17871184_17932288dup
NC_000019.9:g.23624728_24054225del429498
NC_000020.10:g.51258881_51372398del113518
NC_000021.8:g.22418118_22450219del32102
NC_000023.10:g.151638056_151743864del105809
NC_000023.10:g.23209046_23463336del254291
NC_000023.10:g.50653777_50689335del35559
NC_000023.10:g.74772380_74826319del53940
NC_000023.10:g.97984949_98010783del25835
NC_000023.11:g.1435054_1493581dup
NM_001365242.1(CPEB1):c.-98+1610_-98+5362del
NM_006251.6(PRKAA1):c.128-8015_128-1544del
NM_006526.2(ZNF217):c.*561_*22199dup
NM_006729.4(DIAPH2):c.3242-79706_3242-26582dup
NR_033829.1(MIR4500HG):n.58_128+41006dup
NR_104475.1(DUSP22):n.-32176_504+10738dup
NR_147836.1(LINC02714):n.599-7397_140620dup
Single allele

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