ClinVar Miner

List of variants reported as likely pathogenic for Microcephaly-capillary malformation syndrome

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Total variants: 3
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HGVS dbSNP
NM_201647.3(STAMBP):c.1119-6T>G rs797046015
NM_201647.3(STAMBP):c.112C>T (p.Arg38Cys) rs143739249
NM_201647.3(STAMBP):c.125A>G (p.Glu42Gly) rs397509387

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