ClinVar Miner

List of variants reported as likely pathogenic for AU-KLINE SYNDROME

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Total variants: 6
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HGVS dbSNP
NC_000009.12:g.83977702_83977705delinsTGAT
NM_002140.4(HNRNPK):c.214-35A>G rs1554700718
NM_002140.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031263.4(HNRNPK):c.1123G>T (p.Gly375Trp)
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_031263.4(HNRNPK):c.646-1G>A rs1564062144

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