ClinVar Miner

List of variants reported as likely benign for Malan overgrowth syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_002501.4(NFIX):c.1143C>T (p.Ser381=) rs777733912
NM_002501.4(NFIX):c.117G>A (p.Lys39=) rs148229471
NM_002501.4(NFIX):c.1235C>T (p.Ser412Leu)
NM_002501.4(NFIX):c.183G>A (p.Leu61=) rs369196245
NM_002501.4(NFIX):c.252G>T (p.Arg84=) rs769513682
NM_002501.4(NFIX):c.600G>A (p.Ala200=) rs367591626

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