ClinVar Miner

List of variants reported for not provided by James Howe Lab, University of Iowa Hospital and Clinics

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_013447.4(ADGRE2):c.478C>G (p.Leu160Val) rs12976472 0.51180
NM_001164462.2(MUC12):c.8611G>A (p.Ala2871Thr) rs200303708 0.02644
NM_001388492.1(HTT):c.110A>C (p.Gln37Pro) rs587777899 0.01546
NM_004958.4(MTOR):c.5126G>A (p.Arg1709His) rs587777895 0.00002
NM_001123376.3(TMEM72):c.413C>A (p.Ala138Asp) rs587777896
NM_001452.2(FOXF2):c.899C>G (p.Ala300Gly) rs587777898
NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys) rs587777893
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys) rs587777900
NM_005522.5(HOXA1):c.215A>C (p.His72Pro) rs587777901
NM_005961.3(MUC6):c.4577A>T (p.His1526Leu) rs587777897
NM_005961.3(MUC6):c.5911C>T (p.Pro1971Ser) rs113508205
NM_006121.4(KRT1):c.1666G>C (p.Gly556Arg) rs371843007
NM_013241.3(FHOD1):c.635C>T (p.Ala212Val) rs587777904
NM_016141.4(DYNC1LI1):c.1441C>G (p.Pro481Ala) rs587777902
NM_018300.4(ZNF83):c.824A>C (p.His275Pro) rs575275768
NM_181333.4(PRR5):c.166C>A (p.Arg56Ser) rs587777903

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