ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NC_000019.9:g.(?_13136156)_(13151380_?)del
NM_001365902.3(NFIX):c.113G>A (p.Arg38His) rs2013223468
NM_001365902.3(NFIX):c.1155_1156delinsAA (p.His386Asn)
NM_001365902.3(NFIX):c.1183del (p.His395fs) rs2145476207
NM_001365902.3(NFIX):c.143T>A (p.Met48Lys) rs1555696484
NM_001365902.3(NFIX):c.143T>C (p.Met48Thr) rs1555696484
NM_001365902.3(NFIX):c.187G>A (p.Glu63Lys)
NM_001365902.3(NFIX):c.195dup (p.Glu66fs)
NM_001365902.3(NFIX):c.220del (p.Arg74fs) rs2013235786
NM_001365902.3(NFIX):c.250dup (p.Arg84fs)
NM_001365902.3(NFIX):c.274del (p.Val92fs)
NM_001365902.3(NFIX):c.28-12_28-11insAGCC rs2145190803
NM_001365902.3(NFIX):c.325G>T (p.Asp109Tyr) rs2145192459
NM_001365902.3(NFIX):c.335G>T (p.Gly112Val) rs2145192509
NM_001365902.3(NFIX):c.337A>G (p.Lys113Glu) rs1555696597
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_001365902.3(NFIX):c.383G>A (p.Arg128Gln)
NM_001365902.3(NFIX):c.467G>C (p.Cys156Ser) rs1555696641
NM_001365902.3(NFIX):c.629T>A (p.Leu210Ter)
NM_001365902.3(NFIX):c.637C>T (p.Gln213Ter) rs886041422
NM_001365902.3(NFIX):c.772del (p.Gln258fs) rs2016920143
NM_001365902.3(NFIX):c.818+1G>A rs2016923973
NM_001365902.3(NFIX):c.955+2T>C rs1568318932
NM_001365902.3(NFIX):c.95del (p.Asn32fs)

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