ClinVar Miner

List of variants reported for Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency by Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_005101.4(ISG15):c.379G>T (p.Glu127Ter)	rs672601312

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