ClinVar Miner

List of variants reported by Institute of Medical Genetics, University of Zurich

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.8378-5214A>G rs180775394 0.00101
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_001384732.1(CPLANE1):c.5733T>G (p.Tyr1911Ter) rs770770257 0.00003
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162 0.00002
NM_198525.3(KIF7):c.2593-3C>G rs774403667 0.00002
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001286615.2(ANO4):c.2174T>C (p.Ile725Thr) rs200708403 0.00001
NM_001384732.1(CPLANE1):c.2624C>T (p.Ser875Phe) rs794727154 0.00001
NC_000023.10:g.31890407_31909106del
NM_000037.4(ANK1):c.4140del (p.Leu1382fs) rs2486739996
NM_000193.4(SHH):c.1282del (p.Ala428fs) rs1554493617
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000267.3:c.(3708_+1_3709-1)_(3974+1_3975-1)del
NM_000267.3:c.(?_-383)_(60+1_61-1)del
NM_001042492.3(NF1):c.1502_1503insGGAAATTCA (p.Ile500_His501insGlnGluIle) rs2544829761
NM_001042492.3(NF1):c.1642-1359A>T rs531397169
NM_001042492.3(NF1):c.1768del (p.Met590fs) rs2508125537
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_001042492.3(NF1):c.4482_4483del (p.His1494fs) rs1555618821
NM_001042492.3(NF1):c.5034_5040del (p.Val1677_Tyr1678insTer) rs2508696307
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6971del (p.Gln2324fs) rs2508770185
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001130682.3(GUCY1A1):c.1422del (p.Lys475fs) rs1347958848
NM_001206998.2(ZNRF3):c.1000C>T (p.Arg334Trp) rs2517591567
NM_001206998.2(ZNRF3):c.1031del (p.Pro344fs) rs2517592435
NM_001206998.2(ZNRF3):c.190del (p.Val64fs) rs2518273027
NM_001206998.2(ZNRF3):c.311T>C (p.Leu104Pro) rs2517532919
NM_001206998.2(ZNRF3):c.536C>T (p.Pro179Leu) rs2517585923
NM_001206998.2(ZNRF3):c.878G>A (p.Cys293Tyr) rs2517589745
NM_001206998.2(ZNRF3):c.887G>A (p.Cys296Tyr) rs2517589753
NM_001206998.2(ZNRF3):c.920G>A (p.Arg307Gln) rs2517591405
NM_001206998.2(ZNRF3):c.956G>A (p.Cys319Tyr) rs2517591470
NM_001206998.2(ZNRF3):c.965C>G (p.Pro322Arg) rs2517591496
NM_001206998.2:c.301-10827_426+11057del
NM_001286615.2(ANO4):c.1582G>A (p.Val528Met) rs2541492742
NM_001286615.2(ANO4):c.1674C>A (p.Asn558Lys) rs2541493503
NM_001286615.2(ANO4):c.1684A>T (p.Ile562Phe) rs2049521857
NM_001286615.2(ANO4):c.1688T>A (p.Met563Lys) rs2049522225
NM_001286615.2(ANO4):c.1807A>G (p.Asn603Asp) rs2541533331
NM_001286615.2(ANO4):c.387C>G (p.Asn129Lys) rs1224091418
NM_001355436.2(SPTB):c.2749_2750del (p.Ser917fs) rs2503150240
NM_001384732.1(CPLANE1):c.4314del (p.Glu1439fs) rs1554084360
NM_001384732.1(CPLANE1):c.4643A>G (p.Asp1548Gly) rs759649053
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001846.4(COL4A2):c.3634G>A (p.Gly1212Ser) rs2502185131
NM_005343.4(HRAS):c.176C>G (p.Ala59Gly) rs2133991112
NM_006031.6(PCNT):c.7804G>T (p.Glu2602Ter) rs1555999948
NM_006268.5(DPF2):c.970T>G (p.Cys324Gly) rs2495407169
NM_015335.5(MED13L):c.2504del (p.Pro835fs) rs1555246952
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_198525.3(KIF7):c.1643dup (p.Arg549fs) rs1555424684
NM_198525.3(KIF7):c.2164G>T (p.Glu722Ter) rs1555424505
NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter) rs387907045
NM_198525.3(KIF7):c.423_428del (p.His142_Val143del) rs1555425036

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