ClinVar Miner

List of variants reported as pathogenic by Kariminejad - Najmabadi Pathology & Genetics Center

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Total variants: 20
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HGVS dbSNP
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298
NM_000051.3(ATM):c.3244_3245insG (p.His1082fs)
NM_000070.3(CAPN3):c.1292dup (p.Ser432fs) rs1555421856
NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter) rs121917709
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) rs1057517836
NM_000359.3(TGM1):c.428G>A (p.Arg143His) rs121918719
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881
NM_000391.4(TPP1):c.687+2T>G rs1057516945
NM_001145536.2(C17orf107):c.*1457A>T
NM_001160372.4(TRAPPC9):c.2491C>T (p.Arg831Ter)
NM_001244710.1(GFPT1):c.686-2A>G rs1011196447
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063
NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter) rs549556142
NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter) rs876661408
NM_003672.4(CDC14A):c.1351_1352del (p.Ala451fs)
NM_004006.2(DMD):c.2804-1del rs1557374667
NM_015046.7(SETX):c.5306_5307GA[1] (p.Glu1770fs) rs750959420
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_021971.2(GMPPB):c.1000G>A rs397509422

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