ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001365902.3(NFIX):c.183G>A (p.Leu61=) rs369196245 0.00044
NM_001365902.3(NFIX):c.117G>A (p.Lys39=) rs148229471 0.00027
NM_001365902.3(NFIX):c.1143C>T (p.Ser381=) rs777733912 0.00010
NM_001365902.3(NFIX):c.843C>T (p.Ile281=) rs201741871 0.00008
NM_001365902.3(NFIX):c.786G>A (p.Gly262=) rs199590032 0.00006
NM_001365902.3(NFIX):c.252G>T (p.Arg84=) rs769513682 0.00004
NM_001365902.3(NFIX):c.105G>A (p.Ala35=) rs761426805 0.00002
NM_001365902.3(NFIX):c.1248C>G (p.Thr416=) rs372077833 0.00002
NM_001365902.3(NFIX):c.186C>G (p.Gly62=) rs1057523001 0.00001
NM_001365902.3(NFIX):c.309C>T (p.Cys103=) rs376885081 0.00001
NM_001365902.3(NFIX):c.560-6C>T rs1008207585 0.00001
NM_001365902.3(NFIX):c.600G>A (p.Ala200=) rs367591626 0.00001
NM_001365902.3(NFIX):c.604A>G (p.Ile202Val) rs772764812 0.00001
NM_001365902.3(NFIX):c.1078+13G>A
NM_001365902.3(NFIX):c.1078+14G>A
NM_001365902.3(NFIX):c.1078+9T>A
NM_001365902.3(NFIX):c.1079-10G>C rs772344456
NM_001365902.3(NFIX):c.1079-10G>T rs772344456
NM_001365902.3(NFIX):c.1161G>A (p.Pro387=) rs745896204
NM_001365902.3(NFIX):c.1174CAC[5] (p.His395_Gly396insHis)
NM_001365902.3(NFIX):c.1179C>T (p.His393=)
NM_001365902.3(NFIX):c.1185C>T (p.His395=)
NM_001365902.3(NFIX):c.1235C>T (p.Ser412Leu) rs2017489032
NM_001365902.3(NFIX):c.1263T>C (p.Gly421=)
NM_001365902.3(NFIX):c.1266C>T (p.Ser422=)
NM_001365902.3(NFIX):c.129G>A (p.Lys43=)
NM_001365902.3(NFIX):c.1305G>A (p.Pro435=)
NM_001365902.3(NFIX):c.138G>A (p.Lys46=) rs1599737654
NM_001365902.3(NFIX):c.1402+20G>A
NM_001365902.3(NFIX):c.1403-14C>T
NM_001365902.3(NFIX):c.1403-20C>T
NM_001365902.3(NFIX):c.141G>A (p.Arg47=)
NM_001365902.3(NFIX):c.1494+16C>G
NM_001365902.3(NFIX):c.1494+18C>T
NM_001365902.3(NFIX):c.1495-10C>T
NM_001365902.3(NFIX):c.1495-15T>C
NM_001365902.3(NFIX):c.1495-18T>C
NM_001365902.3(NFIX):c.231C>T (p.Ala77=)
NM_001365902.3(NFIX):c.235C>T (p.Leu79=)
NM_001365902.3(NFIX):c.255C>T (p.Pro85=)
NM_001365902.3(NFIX):c.28-322A>G
NM_001365902.3(NFIX):c.28-327C>T rs1368994635
NM_001365902.3(NFIX):c.28-355G>A
NM_001365902.3(NFIX):c.28-368G>T
NM_001365902.3(NFIX):c.28-370G>A
NM_001365902.3(NFIX):c.288G>A (p.Thr96=)
NM_001365902.3(NFIX):c.33G>A (p.Glu11=)
NM_001365902.3(NFIX):c.360G>A (p.Leu120=)
NM_001365902.3(NFIX):c.384G>A (p.Arg128=)
NM_001365902.3(NFIX):c.393G>A (p.Leu131=)
NM_001365902.3(NFIX):c.393G>C (p.Leu131=)
NM_001365902.3(NFIX):c.426G>A (p.Leu142=)
NM_001365902.3(NFIX):c.42G>A (p.Pro14=)
NM_001365902.3(NFIX):c.459G>T (p.Ser153=)
NM_001365902.3(NFIX):c.477C>G (p.Pro159=)
NM_001365902.3(NFIX):c.48C>T (p.Ile16=) rs559433211
NM_001365902.3(NFIX):c.523C>T (p.Leu175=)
NM_001365902.3(NFIX):c.555T>G (p.Thr185=)
NM_001365902.3(NFIX):c.559+18A>G
NM_001365902.3(NFIX):c.559+8G>A
NM_001365902.3(NFIX):c.55C>T (p.Leu19=)
NM_001365902.3(NFIX):c.567A>G (p.Gly189=)
NM_001365902.3(NFIX):c.582A>C (p.Ser194=)
NM_001365902.3(NFIX):c.612A>G (p.Pro204=)
NM_001365902.3(NFIX):c.622+10C>T
NM_001365902.3(NFIX):c.628T>C (p.Leu210=) rs1568316185
NM_001365902.3(NFIX):c.66C>T (p.His22=)
NM_001365902.3(NFIX):c.675G>A (p.Thr225=)
NM_001365902.3(NFIX):c.690A>G (p.Val230=) rs1599843738
NM_001365902.3(NFIX):c.697+17T>C
NM_001365902.3(NFIX):c.731C>G (p.Ser244Cys)
NM_001365902.3(NFIX):c.742C>T (p.Leu248=)
NM_001365902.3(NFIX):c.765C>T (p.Asn255=)
NM_001365902.3(NFIX):c.769A>G (p.Asn257Asp)
NM_001365902.3(NFIX):c.787C>T (p.Arg263Trp) rs1568316909
NM_001365902.3(NFIX):c.846T>C (p.Asp282=)
NM_001365902.3(NFIX):c.876C>T (p.Asp292=)
NM_001365902.3(NFIX):c.906A>C (p.Pro302=)
NM_001365902.3(NFIX):c.955+15G>C
NM_001365902.3(NFIX):c.956-14C>T
NM_001365902.3(NFIX):c.956-4C>G
NM_001365902.3(NFIX):c.956-4C>T

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