ClinVar Miner

List of variants studied for Malan overgrowth syndrome by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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NM_002501.4(NFIX):c.1140G>A (p.Ser380=) rs201174259
NM_002501.4(NFIX):c.143T>C (p.Met48Thr)
NM_002501.4(NFIX):c.183G>A (p.Leu61=) rs369196245
NM_002501.4(NFIX):c.232A>T (p.Lys78Ter)
NM_002501.4(NFIX):c.303dup (p.Cys102fs)
NM_002501.4(NFIX):c.358del (p.Leu120fs) rs1555696611
NM_002501.4(NFIX):c.43_49dup (p.Glu17fs)
NM_002501.4(NFIX):c.787C>T (p.Arg263Trp) rs1568316909
NM_002501.4(NFIX):c.955+2T>C rs1568318932
NM_002501.4(NFIX):c.988G>A (p.Asp330Asn) rs1215112413

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