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: 12
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HGVS dbSNP
NM_001365902.3(NFIX):c.1235C>T (p.Ser412Leu)
NM_001365902.3(NFIX):c.28-327C>T
NM_001365902.3(NFIX):c.843C>T (p.Ile281=)
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.138G>A (p.Lys46=) rs1599737654
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.309C>T (p.Cys103=) rs376885081
NM_002501.4(NFIX):c.560-6C>T rs1008207585
NM_002501.4(NFIX):c.600G>A (p.Ala200=) rs367591626
NM_002501.4(NFIX):c.787C>T (p.Arg263Trp) rs1568316909

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