ClinVar Miner

List of variants in gene NSD1 studied for Weaver syndrome

Included ClinVar conditions (1):
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.*3098dup rs145155077 0.00042
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr) rs138641637 0.00035
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) rs140229717 0.00010
NM_022455.5(NSD1):c.*1014dup rs886060448 0.00005
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900 0.00004
NM_022455.5(NSD1):c.*4596del rs886060459 0.00003
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983 0.00003
NM_022455.5(NSD1):c.2170G>A (p.Glu724Lys) rs771456995 0.00002
NM_022455.5(NSD1):c.1063+10dup rs762416925 0.00001
NM_022455.5(NSD1):c.*216CCAA[1] rs886060444
NM_022455.5(NSD1):c.*4609_*4611del rs60995782
NM_022455.5(NSD1):c.*4610_*4611del rs60995782
NM_022455.5(NSD1):c.*4610_*4611dup rs60995782
NM_022455.5(NSD1):c.*4611del rs60995782
NM_022455.5(NSD1):c.*4611dup rs60995782
NM_022455.5(NSD1):c.*4612del rs886060465
NM_022455.5(NSD1):c.*565del rs886060446
NM_022455.5(NSD1):c.*839dup rs886060447

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