ClinVar Miner

List of variants reported as pathogenic by Laboratory of Medical Genetics, University of Torino

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ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter) rs759960319 0.00001
NM_017780.4(CHD7):c.6194G>A (p.Arg2065His) rs1197494895 0.00001
NM_057175.5(NAA15):c.382C>T (p.Arg128Ter) rs1274633498 0.00001
NC_000007.13:g.(91715729_91718698)_(91864237_91972337)del
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000314.8(PTEN):c.243T>G (p.Phe81Leu)
NM_000329.3(RPE65):c.[1206G>A;1207_1210dup]
NM_000489.6(ATRX):c.134-4884_242+41del
NM_000489.6(ATRX):c.7366dup (p.Met2456fs)
NM_001007228.2(SPOP):c.478G>A (p.Glu160Lys) rs2072151207
NM_001015877.2(PHF6):c.890G>T (p.Cys297Phe)
NM_001032382.2(PQBP1):c.457_459del (p.Arg153del)
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001034852.3(SMOC1):c.378+1G>T rs751356341
NM_001034852.3(SMOC1):c.709G>T (p.Glu237Ter) rs1566709754
NM_001034852.3(SMOC1):c.857G>A (p.Arg286His) rs1365818420
NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs) rs1553641476
NM_001080517.3(SETD5):c.868_872del (p.Arg290fs)
NM_001083962.2(TCF4):c.1069+1G>C
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) rs1554329317
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001111125.3(IQSEC2):c.3613del (p.Leu1205fs)
NM_001170629.2(CHD8):c.2025-1G>C
NM_001197104.2(KMT2A):c.4777del (p.Arg1593fs)
NM_001282531.3(ADNP):c.2454C>G (p.Tyr818Ter) rs2122743080
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001321075.3(DLG4):c.478G>T (p.Glu160Ter) rs2142885279
NM_001349338.3(FOXP1):c.1569_1570insA (p.Val524fs)
NM_001353345.2(SETD1B):c.598del (p.Gln200fs)
NM_001356.5(DDX3X):c.1439_1440insTCTC (p.Arg480fs)
NM_001372044.2(SHANK3):c.3502_3535del (p.Phe1168fs)
NM_001372044.2(SHANK3):c.3635dup (p.Asp1212fs)
NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)
NM_001374828.1(ARID1B):c.5826G>A (p.Trp1942Ter) rs1554237335
NM_001379403.1(WDR26):c.1376G>A (p.Trp459Ter)
NM_002516.4(NOVA2):c.523del (p.Leu175fs)
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_003482.4(KMT2D):c.13795_13802del (p.Ala4599fs)
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003620.4(PPM1D):c.1280G>A (p.Trp427Ter)
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_005215.4(DCC):c.[4009C>T;4210G>A]
NM_005321.3(H1-4):c.455AGA[1] (p.Lys153del)
NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg) rs2143629984
NM_005618.4(DLL1):c.1538dup (p.Pro514fs)
NM_006218.4(PIK3CA):c.278G>A (p.Arg93Gln) rs1064793663
NM_006279.5(ST3GAL3):c.891+1del rs1387140766
NM_006766.5(KAT6A):c.2927del (p.Gly976fs)
NM_006772.3(SYNGAP1):c.1193del (p.Pro398fs)
NM_006852.6(TLK2):c.1357G>T (p.Glu453Ter) rs2081105269
NM_006852.6(TLK2):c.1586A>G (p.Asp529Gly) rs2082811958
NM_006852.6(TLK2):c.1784C>T (p.Ser595Leu) rs2082914686
NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter) rs1057517786
NM_007217.4(PDCD10):c.575dup (p.Ser193fs) rs1559941951
NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter) rs1558805781
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.439C>T (p.Gln147Ter)
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) rs1589088690
NM_014141.6(CNTNAP2):c.1777+2T>C
NM_014795.4(ZEB2):c.2357dup (p.Leu786fs)
NM_015015.3(KDM4B):c.1783C>T (p.Gln595Ter)
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=) rs776597537
NM_015909.4(NBAS):c.686dup (p.Ser230fs) rs759315662
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018249.6(CDK5RAP2):c.558_559del (p.Glu186fs)
NM_018489.3(ASH1L):c.1013C>A (p.Ser338Ter) rs1665984696
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_020719.3(PRR12):c.3273del (p.Lys1092fs) rs2080782866
NM_024496.4(IRF2BPL):c.1703_1706dup (p.Trp569Ter) rs1885106828
NM_024496.4(IRF2BPL):c.2160del (p.Glu720fs)
NM_024757.5(EHMT1):c.3000del (p.Asp1001fs) rs1954627505
NM_024757.5(EHMT1):c.3331T>A (p.Cys1111Ser)
NM_024757.5(EHMT1):c.3332G>C (p.Cys1111Ser)
NM_024757.5(EHMT1):c.508del (p.Gln170fs) rs1945392174
NM_030665.4(RAI1):c.3179_3180del (p.Leu1060fs) rs2032234525
NM_052867.4(NALCN):c.3522A>T (p.Arg1174Ser) rs2033787523
NM_057175.5(NAA15):c.1165C>T (p.Gln389Ter)
NM_138927.4(SON):c.2910del (p.Pro969_Tyr970insTer)
NM_153747.2(PIGC):c.859G>T (p.Glu287Ter)
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) rs730882175
NM_181840.1(KCNK18):c.487T>G (p.Tyr163Asp)
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) rs1057517753
NM_194454.3(KRIT1):c.1664C>T (p.Ala555Val) rs2131326892
NM_205768.3(ZBTB18):c.691_692del (p.Leu231fs)
NM_205861.3(DHDDS):c.110G>A (p.Arg37His) rs1553121073

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