ClinVar Miner

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

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NC_000001.11:g.112796384_112887499dup
NC_000001.11:g.246005506_246528998dup
NC_000002.11:g.61795359_61831792del36434
NC_000002.12:g.35742924_35765778dup
NC_000003.12:g.127814446_127916946dup
NC_000003.12:g.189709350_189867832dup
NC_000003.12:g.189709350_189870688dup
NC_000003.12:g.57686154_57804308dup
NC_000005.10:g.160592205_161364688dup
NC_000005.9:g.112179040_112192379del13340
NC_000005.9:g.152263564_152321761del58198
NC_000006.12:g.170299941_170556913dup
NC_000006.12:g.7075305_7111311dup
NC_000008.10:g.104306192_104334440del28249
NC_000009.11:g.24242825_24310533del67709
NC_000009.11:g.2654203_2668811del14609
NC_000009.12:g.75502958_76045032dup
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_000014.8:g.54195768_54215968del20201
NC_000015.9:g.34125784_34151995del26212
NC_000016.10:g.56402918_56428075dup
NC_000018.10:g.62431580_62441327del
NC_000019.10:g.17871184_17932288dup
NC_000020.10:g.51258881_51372398del113518
NC_000023.10:g.97984949_98010783del25835
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
Single allele

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