ClinVar Miner

List of variants in gene NSD1 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 13
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HGVS dbSNP
NM_022455.4(NSD1):c.2349del (p.Lys783fs) rs398124374
NM_022455.4(NSD1):c.2915del (p.Thr972fs) rs1554189879
NM_022455.4(NSD1):c.3214C>T (p.Arg1072Ter) rs587784098
NM_022455.4(NSD1):c.3382dup (p.Ser1128fs) rs886043780
NM_022455.4(NSD1):c.4058_4061del (p.Glu1353fs) rs1554195857
NM_022455.4(NSD1):c.4217_4220del (p.Arg1406fs) rs794727930
NM_022455.4(NSD1):c.5279_5282del (p.Val1760fs) rs398124379
NM_022455.4(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.4(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_022455.4(NSD1):c.6152-1G>A rs886044326
NM_022455.4(NSD1):c.6440dup (p.Asn2148fs) rs886042725
NM_022455.4(NSD1):c.6463+1G>A rs398124381
NM_022455.4(NSD1):c.6538_6539insC (p.Ser2180fs) rs398124383

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