ClinVar Miner

List of variants in gene NSD1 reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 4
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HGVS dbSNP
NM_022455.4(NSD1):c.1702_1703insAG (p.Phe568Ter) rs1554189042
NM_022455.4(NSD1):c.2672_2676del (p.Ser891fs) rs1131691754
NM_022455.4(NSD1):c.3449_3450GT[1] (p.Val1151fs) rs1554190262
NM_022455.4(NSD1):c.4949_4950del (p.Asn1650fs) rs1554199501

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