ClinVar Miner

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

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.5(NSD1):c.4302+1G>A rs1562246533
NM_022455.5(NSD1):c.4378+1G>T rs587784115
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter) rs587784137
NM_022455.5(NSD1):c.5724del (p.Ser1909fs) rs1562292879
NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter) rs797045057
NM_022455.5(NSD1):c.788_789del (p.Thr263fs) rs1756282703
NM_022455.5(NSD1):c.7966C>T (p.Gln2656Ter) rs797045058

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