ClinVar Miner

List of variants reported as uncertain significance for Sotos syndrome 1; Acute myeloid leukemia

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Total variants: 4
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HGVS dbSNP
NM_022455.4(NSD1):c.1478C>T (p.Pro493Leu) rs140583358
NM_022455.4(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022455.4(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231
NM_172349.2(NSD1):c.31-22C>A rs144524958

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