ClinVar Miner

List of variants in gene NSD2 studied for chromosome 4 short arm deletion

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001042424.3(NSD2):c.4023C>T (p.Pro1341=) rs149925711 0.00201
NM_001042424.3(NSD2):c.*1922dup rs886059331 0.00006
NM_001042424.3(NSD2):c.1902C>T (p.Asp634=) rs746926553 0.00004
NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser) rs548852837 0.00001
NM_001042424.3(NSD2):c.*1370dup rs886059325
NM_001042424.3(NSD2):c.*2012dup rs766138833
NM_001042424.3(NSD2):c.*339CTC[1] rs375129793
NM_001042424.3(NSD2):c.-29-6901dup rs886059308
NM_001042424.3(NSD2):c.1569dup (p.Lys524fs) rs1560696317
NM_001042424.3(NSD2):c.2675G>A (p.Arg892Lys) rs2108958817
NM_001042424.3(NSD2):c.2826_2827dup (p.Asp943fs)
NM_001042424.3(NSD2):c.2887C>T (p.Gln963Ter) rs1725000714
NM_001042424.3(NSD2):c.3223_3226dup (p.Gly1076fs) rs2108971782
NM_001042424.3(NSD2):c.3271G>A (p.Glu1091Lys) rs2108976523
NM_001042424.3(NSD2):c.708G>A (p.Trp236Ter) rs1560602800
NM_001042424.3(NSD2):c.793C>T (p.Gln265Ter) rs1560635105
NM_001042424.3(NSD2):c.927G>T (p.Lys309Asn)
NM_133330.3(NSD2):c.1676_1679del rs1553873247

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