ClinVar Miner

List of variants in gene LOC126807619, NSD1 studied for Beckwith-Wiedemann syndrome

Included ClinVar conditions (7):

Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Beckwith-Wiedemann syndrome; IMAGe syndrome
Beckwith-Wiedemann syndrome; Sotos syndrome
Beckwith-Wiedemann syndrome; Wilms tumor 1; Silver-Russell syndrome 1; Silver-Russell syndrome 3
IMAGe syndrome; Beckwith-Wiedemann syndrome due to CDKN1C mutation

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_022455.5(NSD1):c.5410T>A (p.Tyr1804Asn)	rs1581497686
NM_022455.5(NSD1):c.5437_5440del (p.Phe1813fs)	rs1554202205

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