ClinVar Miner

List of variants in gene NSD1 reported as benign for Weaver syndrome

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Total variants: 16
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NM_022455.4(NSD1):c.*1220T>C rs11956153
NM_022455.4(NSD1):c.*1597G>A rs11952926
NM_022455.4(NSD1):c.*2185A>G rs12659551
NM_022455.4(NSD1):c.*3338A>C rs75587357
NM_022455.4(NSD1):c.*3542T>C rs4976682
NM_022455.4(NSD1):c.*4175G>A rs3088050
NM_022455.4(NSD1):c.*4611delC rs60995782
NM_022455.4(NSD1):c.1482C>T (p.Cys494=) rs1363405
NM_022455.4(NSD1):c.1749G>A (p.Glu583=) rs3733874
NM_022455.4(NSD1):c.1840G>T (p.Val614Leu) rs3733875
NM_022455.4(NSD1):c.2176T>C (p.Ser726Pro) rs28932178
NM_022455.4(NSD1):c.3705T>C (p.Asn1235=) rs28932181
NM_022455.4(NSD1):c.6750G>A (p.Met2250Ile) rs35848863
NM_022455.4(NSD1):c.6782T>C (p.Met2261Thr) rs34165241
NM_022455.4(NSD1):c.6829T>C (p.Leu2277=) rs28580074
NM_022455.4(NSD1):c.6903G>C (p.Gly2301=) rs11740250

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