ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NC_000005.9:g.(?_176618865)_(176619040_?)dup
NC_000005.9:g.(?_176631101)_(176631313_?)dup
NC_000005.9:g.(?_176662802)_(176662966_?)dup
NM_022455.5(NSD1):c.1064-2A>G rs2149836062
NM_022455.5(NSD1):c.4379-2A>G rs1581429903
NM_022455.5(NSD1):c.4766-1G>A rs1756517678
NM_022455.5(NSD1):c.4766-2A>G rs1581457332
NM_022455.5(NSD1):c.5146+1G>A rs587784139
NM_022455.5(NSD1):c.5149G>C (p.Gly1717Arg) rs1562278357
NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe) rs587784140
NM_022455.5(NSD1):c.5276T>C (p.Ile1759Thr) rs1060501498
NM_022455.5(NSD1):c.5303+1G>C rs587784141
NM_022455.5(NSD1):c.5685C>G (p.Cys1895Trp) rs1758797036
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser) rs1554204110
NM_022455.5(NSD1):c.5736C>G (p.Ile1912Met) rs1562292890
NM_022455.5(NSD1):c.5738A>T (p.Asn1913Ile)
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.5(NSD1):c.5892+1G>A rs886039579
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr) rs587784167
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.5(NSD1):c.6068_6151+174del rs2127262979
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile) rs587784181
NM_022455.5(NSD1):c.6089A>C (p.Gln2030Pro) rs1554204952
NM_022455.5(NSD1):c.6208T>G (p.Cys2070Gly) rs1759551453
NM_022455.5(NSD1):c.6355G>A (p.Asp2119Asn)
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly) rs587784191
NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu) rs1562305653
NM_022455.5(NSD1):c.6424T>G (p.Tyr2142Asp) rs1562305920
NM_022455.5(NSD1):c.6436T>C (p.Cys2146Arg) rs1759885769
NM_022455.5(NSD1):c.6475T>C (p.Cys2159Arg) rs1760056582
NM_022455.5(NSD1):c.6532T>C (p.Cys2178Arg) rs2127279302
NM_022455.5(NSD1):c.6533G>T (p.Cys2178Phe) rs398124382
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg) rs587784208
NM_022455.5(NSD1):c.6605G>T (p.Cys2202Phe)
NM_022455.5(NSD1):c.6614A>G (p.His2205Arg)
NM_022455.5(NSD1):c.7180A>G (p.Ile2394Val) rs1554207690

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