ClinVar Miner

List of variants reported as likely pathogenic for Malan overgrowth syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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NM_001365902.3(NFIX):c.113G>A (p.Arg38His)
NM_001365902.3(NFIX):c.220del (p.Arg74fs)
NM_001365902.3(NFIX):c.772del (p.Gln258fs)
NM_002501.4(NFIX):c.143T>A (p.Met48Lys) rs1555696484
NM_002501.4(NFIX):c.143T>C (p.Met48Thr) rs1555696484
NM_002501.4(NFIX):c.337A>G (p.Lys113Glu) rs1555696597
NM_002501.4(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_002501.4(NFIX):c.467G>C (p.Cys156Ser) rs1555696641
NM_002501.4(NFIX):c.955+2T>C rs1568318932

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