ClinVar Miner

List of variants in gene NSD2 studied for Rauch-Steindl syndrome

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001042424.3(NSD2):c.1019G>A (p.Arg340Gln) rs1159806209 0.00001
GRCh37/hg19 4p16.3(chr4:1877218-1934173)x1
NM_001042424.3(NSD2):c.-29-2A>G rs2474213584
NM_001042424.3(NSD2):c.1103_1104del (p.Glu368fs) rs2474340960
NM_001042424.3(NSD2):c.1253T>C (p.Ile418Thr) rs2474342362
NM_001042424.3(NSD2):c.1348C>T (p.Arg450Ter) rs2108805626
NM_001042424.3(NSD2):c.1406A>T (p.Asp469Val) rs2474343899
NM_001042424.3(NSD2):c.154C>T (p.Gln52Ter) rs748707745
NM_001042424.3(NSD2):c.1577dup (p.Asn527fs) rs2108877068
NM_001042424.3(NSD2):c.1641_1642del (p.Arg548fs) rs1577484648
NM_001042424.3(NSD2):c.1642dup (p.Arg548fs) rs1577484648
NM_001042424.3(NSD2):c.1674G>C (p.Lys558Asn)
NM_001042424.3(NSD2):c.178G>A (p.Gly60Arg)
NM_001042424.3(NSD2):c.1798C>T (p.Arg600Ter)
NM_001042424.3(NSD2):c.1947_1948del (p.Glu650fs) rs2108940433
NM_001042424.3(NSD2):c.2035C>T (p.Leu679Phe)
NM_001042424.3(NSD2):c.2147C>A (p.Ser716Ter) rs2108950399
NM_001042424.3(NSD2):c.2175_2178del (p.Asp726fs) rs2474621465
NM_001042424.3(NSD2):c.2249C>T (p.Thr750Ile)
NM_001042424.3(NSD2):c.2277C>A (p.Cys759Ter) rs574794395
NM_001042424.3(NSD2):c.2350C>T (p.Arg784Trp)
NM_001042424.3(NSD2):c.2518+1G>A rs2474633301
NM_001042424.3(NSD2):c.2518+2T>C
NM_001042424.3(NSD2):c.2714C>T (p.Pro905Leu) rs2474638543
NM_001042424.3(NSD2):c.2803C>T (p.Arg935Ter) rs2108959336
NM_001042424.3(NSD2):c.28dup (p.Leu10fs) rs1717034691
NM_001042424.3(NSD2):c.3056A>G (p.Lys1019Arg) rs2108971327
NM_001042424.3(NSD2):c.3277G>T (p.Val1093Phe) rs1440755101
NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys) rs772470710
NM_001042424.3(NSD2):c.3338A>G (p.Asp1113Gly)
NM_001042424.3(NSD2):c.3353A>G (p.Tyr1118Cys) rs2108976771
NM_001042424.3(NSD2):c.3410C>T (p.Ser1137Phe) rs2109020378
NM_001042424.3(NSD2):c.3412C>G (p.Arg1138Gly) rs1726909627
NM_001042424.3(NSD2):c.3412C>T (p.Arg1138Ter) rs1726909627
NM_001042424.3(NSD2):c.3484G>A (p.Gly1162Ser) rs2474746861
NM_001042424.3(NSD2):c.3554G>T (p.Gly1185Val)
NM_001042424.3(NSD2):c.3716_3717del (p.Glu1239fs) rs2474762078
NM_001042424.3(NSD2):c.3835del (p.Glu1279fs) rs2474781315
NM_001042424.3(NSD2):c.3918G>T (p.Glu1306Asp) rs1402618515
NM_001042424.3(NSD2):c.3925G>C (p.Asp1309His)
NM_001042424.3(NSD2):c.4028del (p.Pro1343fs) rs752037034
NM_001042424.3(NSD2):c.4071del (p.Trp1358fs) rs2109035117
NM_001042424.3(NSD2):c.4080_4081del (p.Arg1360fs)
NM_001042424.3(NSD2):c.4095del (p.Lys1365fs)
NM_133330.3(NSD2):c.1676_1679del rs1553873247

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