ClinVar Miner

List of variants in gene EXOSC9 reported as pathogenic for not provided

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_005033.3(EXOSC9):c.1157-176del rs1453864069 0.00007
NM_005033.3(EXOSC9):c.685C>T (p.Arg229Ter) rs935979786 0.00003
NM_005033.3(EXOSC9):c.329dup (p.Arg111fs) rs754121759 0.00001
NM_005033.3(EXOSC9):c.881_905dup (p.Pro302_Ile303insSerIleTer) rs1176517015 0.00001
NC_000004.12:g.121813865GT[1] rs2149039114
NM_005033.3(EXOSC9):c.1034del (p.Asn345fs)
NM_005033.3(EXOSC9):c.1058_1059del (p.Asp352_Ser353insTer) rs750618265
NM_005033.3(EXOSC9):c.1062del (p.Lys355fs) rs2149039190
NM_005033.3(EXOSC9):c.1098del (p.Ile367fs)
NM_005033.3(EXOSC9):c.1125_1126del (p.Gly376fs)
NM_005033.3(EXOSC9):c.1151_1152insGGTTAGGTAGGTGACA (p.Ser384delinsArgValArgTer)
NM_005033.3(EXOSC9):c.1157-182del
NM_005033.3(EXOSC9):c.1174_1175del (p.Ser392fs)
NM_005033.3(EXOSC9):c.129del (p.Asp42_Tyr43insTer)
NM_005033.3(EXOSC9):c.20C>G (p.Ser7Ter)
NM_005033.3(EXOSC9):c.249_250dup (p.Gln84fs)
NM_005033.3(EXOSC9):c.283C>T (p.Gln95Ter)
NM_005033.3(EXOSC9):c.310C>T (p.Arg104Ter)
NM_005033.3(EXOSC9):c.347_348del (p.Ile116fs)
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter) rs372318863
NM_005033.3(EXOSC9):c.634C>T (p.Arg212Ter)
NM_005033.3(EXOSC9):c.772_781del (p.Val258fs)
NM_005033.3(EXOSC9):c.968C>G (p.Ser323Ter)

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