ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 47 by New York Genome Center

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005862.3(STAG1):c.1189G>C (p.Val397Leu) rs201846240 0.00004
NM_005862.3(STAG1):c.3104T>C (p.Met1035Thr) rs199902670 0.00004
NM_005862.3(STAG1):c.395-8T>C rs746224826 0.00002
NM_005862.3(STAG1):c.1056A>T (p.Lys352Asn) rs2107814357
NM_005862.3(STAG1):c.2196+4167T>G rs2107715024
NM_005862.3(STAG1):c.298-8776C>T rs1190662692
NM_005862.3(STAG1):c.676+5379A>G rs2107894849

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