ClinVar Miner

List of variants reported as likely pathogenic by Hadassah Hebrew University Medical Center

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ClinVar version:
Total variants: 7
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NM_001286715.1(AGTPBP1):c.2351A>G (p.Tyr784Cys)
NM_004990.3(MARS1):c.1852C>T (p.Arg618Cys) rs587777718
NM_004990.3(MARS1):c.920A>G (p.Tyr307Cys) rs758523839
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys)
NM_005512.2(LRRC32):c.1630C>T (p.Arg544Ter)
NM_032793.4(MFSD2A):c.1205C>A (p.Pro402His)

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