ClinVar Miner

List of variants in gene NSD2 reported as pathogenic for chromosomal disorder

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001042424.3(NSD2):c.1569dup (p.Lys524fs) rs1560696317
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.708G>A (p.Trp236Ter) rs1560602800
NM_001042424.3(NSD2):c.793C>T (p.Gln265Ter) rs1560635105
NM_133330.3(NSD2):c.1676_1679del rs1553873247

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