ClinVar Miner

List of variants reported as pathogenic for Malan overgrowth syndrome by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NC_000019.9:g.(?_13106632)_(13428155_?)del
NC_000019.9:g.(?_13186329)_(13189569_?)dup
NC_000019.9:g.(?_13186349)_(13189549_?)del
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)

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