ClinVar Miner

List of variants reported as likely pathogenic by Pediatric Genomics Discovery Program,Yale University

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Total variants: 3
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HGVS dbSNP
NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) rs77078070
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149
NM_145331.3(MAP3K7):c.122_124TTG[1] (p.Val42del)

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