ClinVar Miner

List of variants in gene NSD1 reported as pathogenic by OMIM

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Total variants: 13
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HGVS dbSNP
NM_022455.4(NSD1):c.1310C>G (p.Ser437Ter) rs121908067
NM_022455.4(NSD1):c.3536del (p.Glu1179fs) rs1562213381
NM_022455.4(NSD1):c.3958C>T (p.Arg1320Ter) rs121908070
NM_022455.4(NSD1):c.4977dup (p.Arg1660fs) rs1562269320
NM_022455.4(NSD1):c.5997_5998insT (p.Thr2000fs) rs1562295135
NM_022455.4(NSD1):c.6151+1G>A rs1562296511
NM_022455.4(NSD1):c.6429C>G (p.His2143Gln) rs121908068
NM_022455.4(NSD1):c.6450dup (p.Lys2151fs) rs864309639
NM_022455.4(NSD1):c.6548G>C (p.Cys2183Ser) rs121908069
NM_022455.4(NSD1):c.6605G>A (p.Cys2202Tyr) rs121908071
NM_022455.4(NSD1):c.7968_7971del (p.Gln2656fs) rs1562312238
NM_022455.4(NSD1):c.896del (p.Ser299fs) rs1562099585
NSD1, 1.9-MB DEL

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