ClinVar Miner

List of variants in gene NSD1 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) rs28580074 0.84910
NM_022455.5(NSD1):c.2169C>T (p.Thr723=) rs11948062 0.00453
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe) rs149334244 0.00145
NM_022455.5(NSD1):c.339C>T (p.Cys113=) rs77093936 0.00108
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_022455.5(NSD1):c.1980C>T (p.Asn660=) rs140072393 0.00069
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr) rs138641637 0.00035
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr) rs142703625 0.00028
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) rs140229717 0.00010
NM_022455.5(NSD1):c.3803G>A (p.Arg1268Gln) rs368706736 0.00005
NM_022455.5(NSD1):c.6001C>T (p.Leu2001=) rs587784172 0.00003
NM_022455.5(NSD1):c.767C>T (p.Ala256Val) rs558302421 0.00003
NM_022455.5(NSD1):c.1495G>A (p.Ala499Thr) rs587784075 0.00002
NM_022455.5(NSD1):c.2944G>C (p.Gly982Arg) rs587784091 0.00001
NM_022455.5(NSD1):c.6480G>A (p.Pro2160=) rs587784203 0.00001
NM_022455.5(NSD1):c.5630G>A (p.Arg1877His) rs1554204064
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.5(NSD1):c.7560A>G (p.Ala2520=) rs587784218

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