ClinVar Miner

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

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_007038.5(ADAMTS5):c.2176G>A (p.Gly726Arg) rs1986874557 0.00001
NM_015340.4(LARS2):c.326A>G (p.Asp109Gly) rs1698123763 0.00001
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_000016.9:g.89220725_89420725dup200001
NC_000018.10:g.62431580_62441327del
NC_000019.10:g.17871184_17932288dup
NC_000019.10:g.53536530_53981185dup
NC_000020.10:g.51258881_51372398del113518
NC_000023.10:g.97984949_98010783del25835
NM_000136.3(FANCC):c.1027T>G (p.Tyr343Asp) rs990172603
NM_000946.3(PRIM1):c.873G>T (p.Trp291Cys) rs1953872046
NM_001012755.5(SLC25A53):c.-22690_-32+1371dup
NM_001036.6(RYR3):c.2567C>G (p.Thr856Ser) rs1189945732
NM_001036.6(RYR3):c.6604G>A (p.Ala2202Thr) rs2066768594
NM_001048205.2(REC8):c.1057A>C (p.Thr353Pro) rs370763234
NM_001080435.3(WHAMM):c.734C>T (p.Pro245Leu) rs2050659596
NM_001184785.2(PARD3):c.3181C>G (p.Gln1061Glu) rs910077515
NM_001297719.2(BMAL1):c.18G>C (p.Met6Ile) rs1942174898
NM_001321324.2(MOV10):c.2831A>G (p.Tyr944Cys) rs1674524213
NM_001349232.2(ATG7):c.1261C>T (p.Leu421Phe) rs1954829367
NM_001365242.1(CPEB1):c.-98+1610_-98+5362del
NM_002037.5(FYN):c.206C>G (p.Ser69Cys) rs1800846906
NM_002303.6(LEPR):c.709C>T (p.Pro237Ser) rs1656071790
NM_002467.6(MYC):c.478G>A (p.Val160Ile) rs1813651626
NM_003399.6(XPNPEP2):c.1081G>A (p.Glu361Lys) rs1926453223
NM_005269.3(GLI1):c.2227T>C (p.Tyr743His) rs1871871826
NM_006251.6(PRKAA1):c.128-8015_128-1544del
NM_006526.2(ZNF217):c.*561_*22199dup
NM_007371.4(BRD3):c.1149G>A (p.Met383Ile) rs1830145204
NM_013275.6(ANKRD11):c.7031T>C (p.Leu2344Pro) rs2033979033
NM_015104.3(ATG2A):c.1954C>A (p.Leu652Met) rs1944696380
NM_020311.3(ACKR3):c.1003T>G (p.Ser335Ala) rs1691535270
NM_030665.4(RAI1):c.3272C>A (p.Ala1091Asp) rs2143002601
Single allele

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