ClinVar Miner

List of variants studied for Wolf-Hirschhorn syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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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.*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

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