ClinVar Miner

List of variants in gene NSD1 reported as likely pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly) rs570278338 0.00001
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His) rs587784175 0.00001
NC_000005.9:g.(?_176618865)_(176619040_?)dup
NC_000005.9:g.(?_176631101)_(176631313_?)dup
NC_000005.9:g.(?_176662802)_(176662966_?)dup
NM_022455.4:c.5623-?_c.8091+?del
NM_022455.4:c.928-10312_3797-10414del
NM_022455.5(NSD1):c.1064-2A>G rs2149836062
NM_022455.5(NSD1):c.1207A>T (p.Lys403Ter)
NM_022455.5(NSD1):c.1726_1727del (p.Asn576fs)
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs) rs2149843640
NM_022455.5(NSD1):c.197dup (p.Ser67fs) rs1756220614
NM_022455.5(NSD1):c.2350C>T (p.Gln784Ter) rs374740802
NM_022455.5(NSD1):c.2431_2432insCACTC (p.Ser811fs)
NM_022455.5(NSD1):c.2889_2890del (p.His963fs)
NM_022455.5(NSD1):c.3004_3007del (p.Lys1002fs) rs2149846876
NM_022455.5(NSD1):c.3036_3054dup (p.Arg1019delinsPheArgLeuCysTyrTer) rs1554189972
NM_022455.5(NSD1):c.3418_3419del (p.Val1140fs) rs1763367673
NM_022455.5(NSD1):c.3686C>G (p.Ser1229Ter) rs1763389239
NM_022455.5(NSD1):c.3774delinsCAGCTCACC (p.Gln1259fs)
NM_022455.5(NSD1):c.3940G>T (p.Glu1314Ter)
NM_022455.5(NSD1):c.4014del (p.Glu1340fs)
NM_022455.5(NSD1):c.4139_4140dup (p.Val1381fs)
NM_022455.5(NSD1):c.4193-1G>A rs1581411423
NM_022455.5(NSD1):c.4378+1G>A rs587784115
NM_022455.5(NSD1):c.4378+3_4378+6del rs1562251194
NM_022455.5(NSD1):c.4379-2A>G rs1581429903
NM_022455.5(NSD1):c.4538_4539insTCCT (p.Glu1513fs) rs1581433729
NM_022455.5(NSD1):c.4642-2A>G
NM_022455.5(NSD1):c.4766-2A>G rs1581457332
NM_022455.5(NSD1):c.4776del (p.Cys1593fs)
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.5(NSD1):c.4823dup (p.Pro1609fs)
NM_022455.5(NSD1):c.4831T>C (p.Cys1611Arg) rs2149912373
NM_022455.5(NSD1):c.4844A>C (p.Tyr1615Ser) rs398124378
NM_022455.5(NSD1):c.4913A>G (p.His1638Arg)
NM_022455.5(NSD1):c.4972_4974del (p.Leu1658del)
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys) rs587784134
NM_022455.5(NSD1):c.5021G>A (p.Cys1674Tyr) rs587784135
NM_022455.5(NSD1):c.5066G>C (p.Cys1689Ser) rs1756866850
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg) rs1554200207
NM_022455.5(NSD1):c.5146+1G>A rs587784139
NM_022455.5(NSD1):c.5149G>A (p.Gly1717Ser)
NM_022455.5(NSD1):c.5149G>C (p.Gly1717Arg) rs1562278357
NM_022455.5(NSD1):c.5198G>A (p.Cys1733Tyr) rs587784140
NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe) rs587784140
NM_022455.5(NSD1):c.5268C>A (p.Tyr1756Ter)
NM_022455.5(NSD1):c.5303+1G>C rs587784141
NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp)
NM_022455.5(NSD1):c.5616T>A (p.His1872Gln)
NM_022455.5(NSD1):c.5685C>G (p.Cys1895Trp) rs1758797036
NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser) rs1554204110
NM_022455.5(NSD1):c.5726_5727del (p.Asp1908_Ser1909insTer) rs2127257129
NM_022455.5(NSD1):c.5736C>G (p.Ile1912Met) rs1562292890
NM_022455.5(NSD1):c.5738A>T (p.Asn1913Ile)
NM_022455.5(NSD1):c.5741G>A (p.Arg1914His) rs587784155
NM_022455.5(NSD1):c.5741G>C (p.Arg1914Pro) rs587784155
NM_022455.5(NSD1):c.5758T>A (p.Cys1920Ser) rs1554204122
NM_022455.5(NSD1):c.5758T>C (p.Cys1920Arg) rs1554204122
NM_022455.5(NSD1):c.5798A>G (p.Asn1933Ser) rs587784156
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val)
NM_022455.5(NSD1):c.5892+1G>A rs886039579
NM_022455.5(NSD1):c.5907_5908insA (p.Glu1970fs)
NM_022455.5(NSD1):c.5918G>T (p.Gly1973Val) rs587784166
NM_022455.5(NSD1):c.5927T>A (p.Ile1976Lys) rs587784167
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr) rs587784167
NM_022455.5(NSD1):c.5972_5973dup (p.Asp1992fs)
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_022455.5(NSD1):c.6013C>G (p.Arg2005Gly) rs587784173
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.5(NSD1):c.6019A>T (p.Ile2007Phe) rs1057516048
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val)
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.6068_6151+174del rs2127262979
NM_022455.5(NSD1):c.6080G>C (p.Cys2027Ser) rs587784180
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile) rs587784181
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs) rs1581535570
NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln)
NM_022455.5(NSD1):c.6208T>C (p.Cys2070Arg) rs1759551453
NM_022455.5(NSD1):c.6208T>G (p.Cys2070Gly) rs1759551453
NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter) rs1581548112
NM_022455.5(NSD1):c.6257dup (p.Asn2087fs)
NM_022455.5(NSD1):c.6328C>T (p.Gln2110Ter) rs1554206783
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.6413G>A (p.Cys2138Tyr) rs587784195
NM_022455.5(NSD1):c.6418A>G (p.Lys2140Glu) rs587784196
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.6437dup (p.Cys2146fs) rs1554206836
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_022455.5(NSD1):c.6475T>C (p.Cys2159Arg) rs1760056582
NM_022455.5(NSD1):c.6485A>C (p.His2162Pro) rs587784204
NM_022455.5(NSD1):c.6486T>G (p.His2162Gln) rs2127279165
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr) rs587784205
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del) rs587784206
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.6542_6544dup (p.Ser2181_Phe2182insSer) rs797045833
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly) rs1554207287
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg) rs587784208
NM_022455.5(NSD1):c.6605G>T (p.Cys2202Phe)
NM_022455.5(NSD1):c.6613C>T (p.His2205Tyr) rs1554207316
NM_022455.5(NSD1):c.6614A>G (p.His2205Arg)
NM_022455.5(NSD1):c.6630_6644del (p.Asn2211_Pro2215del) rs587784211
NM_022455.5(NSD1):c.6647G>A (p.Gly2216Glu) rs1760068807
NM_022455.5(NSD1):c.7180A>G (p.Ile2394Val) rs1554207690
NM_022455.5(NSD1):c.7227dup (p.Pro2410fs) rs2127282070
NM_022455.5(NSD1):c.7241dup (p.Leu2414fs)
NM_022455.5(NSD1):c.7540C>T (p.Gln2514Ter)
NM_022455.5(NSD1):c.7551del (p.Ala2519fs)

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