ClinVar Miner

List of variants studied for Malan overgrowth syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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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.1140G>A (p.Ser380=) rs201174259
NM_002501.4(NFIX):c.136A>T (p.Lys46Ter) rs1568268397
NM_002501.4(NFIX):c.143T>C (p.Met48Thr)
NM_002501.4(NFIX):c.179T>C (p.Leu60Pro) rs387907254
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.337A>G (p.Lys113Glu) rs1555696597
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)
NM_002501.4(NFIX):c.467G>C (p.Cys156Ser) rs1555696641
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
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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