ClinVar Miner

List of variants in gene NFIX reported as likely pathogenic for Marshall-Smith syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NC_000019.9:g.(?_13136156)_(13151380_?)del
NM_001365902.3(NFIX):c.1155_1156delinsAA (p.His386Asn)
NM_001365902.3(NFIX):c.143T>A (p.Met48Lys) rs1555696484
NM_001365902.3(NFIX):c.1449del (p.Ile483fs) rs2018057322
NM_001365902.3(NFIX):c.1459del (p.Asp487fs)
NM_001365902.3(NFIX):c.187G>A (p.Glu63Lys)
NM_001365902.3(NFIX):c.247_270del (p.Ile83_Asp90del) rs2145192041
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_001365902.3(NFIX):c.486C>A (p.Cys162Ter)
NM_001365902.3(NFIX):c.637C>T (p.Gln213Ter) rs886041422
NM_001365902.3(NFIX):c.834del (p.Lys279fs) rs1568318540
NM_001365902.3(NFIX):c.912_921dup (p.Gln308fs) rs2145442806
NM_001365902.3(NFIX):c.955+2T>C rs1568318932
NM_002501.3(NFIX):c.[346C>T;348G>A]

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