ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_003579.4(RAD54L):c.1138C>T (p.Arg380Trp) rs150138364 0.00006
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) rs111033750 0.00005
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00001
NC_000001.10:g.172652343_183538289del10885947
NC_000003.11:g.9387774_9503839del116066
NC_000007.13:g.23236782_30690453del7453672
NC_000009.12:g.137604238_138131469dup
NC_000013.11:g.46968080_87381985del40413906
NC_000016.10:g.89490211_89491991del
NC_000016.9:g.88365786_89584412del1218627
NC_000016.9:g.89306725_89339913del33189
NC_000017.11:g.1227482_1458196dup
NC_000022.10:g.21808950_22963000del1154051
NC_000023.10:g.50653777_50689335del35559
NM_001080517.3(SETD5):c.1573_1574del (p.Leu525fs) rs2042109833
NM_001080517.3(SETD5):c.960del (p.Lys320fs) rs2041316219
NM_001282717.2(STAG3):c.1069C>T (p.Arg357Ter) rs774733445
NM_004972.4(JAK2):c.436G>A (p.Asp146Asn) rs1299892808
NM_013275.6(ANKRD11):c.-145+634_-145+1315del rs2152385271
NM_013275.6(ANKRD11):c.-145+88_-145+103del rs2152388054
NM_013275.6(ANKRD11):c.1232C>A (p.Ser411Ter) rs1414996600
NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter) rs900492387
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs) rs1597464953
NM_013275.6(ANKRD11):c.1388_1389del (p.Lys463fs) rs1555529726
NM_013275.6(ANKRD11):c.1459G>T (p.Glu487Ter) rs2151764291
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.2368G>T (p.Glu790Ter) rs2151760280
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2523G>A (p.Trp841Ter) rs2151759503
NM_013275.6(ANKRD11):c.3319_3322del (p.Lys1107fs) rs2151755532
NM_013275.6(ANKRD11):c.3768_3769del (p.His1256fs) rs2034368063
NM_013275.6(ANKRD11):c.4261G>T (p.Glu1421Ter) rs148501903
NM_013275.6(ANKRD11):c.6552_6558dup (p.Pro2187Ter) rs2151735444
NM_013275.6(ANKRD11):c.6836_6837del (p.Val2279fs) rs1555525296
NM_030665.4(RAI1):c.-148-13952_-148-10583del
NM_207189.4(BRDT):c.1538del (p.Asp513fs) rs1188709614

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