List of variants in gene NSD2 studied for 4p partial monosomy syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
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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