ClinVar Miner

List of variants reported as pathogenic for Malan overgrowth syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001365902.3(NFIX):c.317C>T (p.Ser106Phe)
NM_001365902.3(NFIX):c.325G>T (p.Asp109Tyr)	rs2145192459
NM_001365902.3(NFIX):c.41_42dup (p.Phe15fs)

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