ClinVar Miner

List of variants in gene NFIX reported as pathogenic for Malan overgrowth syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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NM_001365902.3(NFIX):c.120C>G (p.Tyr40Ter)
NM_001365902.3(NFIX):c.187G>T (p.Glu63Ter)
NM_001365902.3(NFIX):c.347G>A (p.Arg116Gln)
NM_001365902.3(NFIX):c.60_75dup (p.Phe26fs)
NM_002501.4(NFIX):c.136A>T (p.Lys46Ter) rs1568268397
NM_002501.4(NFIX):c.179T>C (p.Leu60Pro) rs387907254
NM_002501.4(NFIX):c.232A>T (p.Lys78Ter) rs1599738036
NM_002501.4(NFIX):c.303dup (p.Cys102fs) rs886041304
NM_002501.4(NFIX):c.338_342dup (p.Arg116fs) rs797045056
NM_002501.4(NFIX):c.358del (p.Leu120fs) rs1555696611
NM_002501.4(NFIX):c.362G>C (p.Arg121Pro) rs387907255
NM_002501.4(NFIX):c.43_49dup (p.Glu17fs) rs1599737421
NM_002501.4(NFIX):c.568C>T (p.Gln190Ter) rs387907253
NM_002501.4(NFIX):c.716C>G (p.Ser239Ter) rs587779381
NM_002501.4(NFIX):c.73del (p.Ala25fs) rs1135401802

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