ClinVar Miner

List of variants reported as likely pathogenic by Medical Genetics Clinic,Mersin Women and Children Hospital

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Total variants: 2
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HGVS dbSNP
NM_001999.4(FBN2):c.3973G>A (p.Asp1325Asn) rs1554122802
NM_016188.5(ACTL6B):c.1261_1275del (p.Val421_Cys425del) rs1562846694

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