ClinVar Miner

List of variants in gene NSD1 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.4786T>A (p.Cys1596Ser) rs1554199383
NM_022455.5(NSD1):c.4912C>T (p.His1638Tyr) rs1064796568
NM_022455.5(NSD1):c.5059ATC[1] (p.Ile1688del) rs1554200200
NM_022455.5(NSD1):c.5129G>T (p.Cys1710Phe) rs1057518133
NM_022455.5(NSD1):c.5201T>C (p.Leu1734Pro)
NM_022455.5(NSD1):c.5521G>C (p.Ala1841Pro) rs1064795720
NM_022455.5(NSD1):c.5552A>C (p.Gln1851Pro) rs2127241876
NM_022455.5(NSD1):c.5609A>G (p.Tyr1870Cys) rs1057521142
NM_022455.5(NSD1):c.5683T>C (p.Cys1895Arg) rs1554204102
NM_022455.5(NSD1):c.5725T>C (p.Ser1909Pro)
NM_022455.5(NSD1):c.5815C>T (p.Arg1939Cys) rs1064796690
NM_022455.5(NSD1):c.5903T>C (p.Val1968Ala) rs1064795059
NM_022455.5(NSD1):c.5910G>C (p.Glu1970Asp) rs1554204594
NM_022455.5(NSD1):c.5996T>C (p.Leu1999Pro) rs1085307903
NM_022455.5(NSD1):c.6009+1G>T rs1554204648
NM_022455.5(NSD1):c.6029G>A (p.Gly2010Asp) rs1064795588
NM_022455.5(NSD1):c.6058A>T (p.Asn2020Tyr) rs1057518052
NM_022455.5(NSD1):c.6158A>C (p.Glu2053Ala) rs1131691321
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_022455.5(NSD1):c.6289A>G (p.Lys2097Glu) rs1057518286
NM_022455.5(NSD1):c.6291_6294del (p.Lys2097fs) rs2127276046
NM_022455.5(NSD1):c.6412T>C (p.Cys2138Arg) rs1064795734
NM_022455.5(NSD1):c.6421del (p.Val2141fs) rs587784197
NM_022455.5(NSD1):c.6425A>C (p.Tyr2142Ser) rs1057518051
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_022455.5(NSD1):c.6463G>A (p.Gly2155Arg) rs1554206845
NM_022455.5(NSD1):c.6492dup (p.Asp2165Ter) rs1554207244
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del) rs587784206
NM_022455.5(NSD1):c.6524G>T (p.Cys2175Phe) rs1581562963
NM_022455.5(NSD1):c.6547T>A (p.Cys2183Ser)
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter) rs587784209
NM_022455.5(NSD1):c.6605G>A (p.Cys2202Tyr) rs121908071
NM_022455.5(NSD1):c.6614A>C (p.His2205Pro) rs2127279532
NM_022455.5(NSD1):c.6640G>A (p.Glu2214Lys) rs587784213
NM_022455.5(NSD1):c.6643_6644delinsGAT (p.Pro2215fs) rs1554207344
NM_022455.5(NSD1):c.6655C>T (p.Arg2219Cys) rs2127279650
NM_022455.5(NSD1):c.6965dup (p.Ala2323fs) rs1057517998

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