ClinVar Miner

List of variants in gene NFIA reported as pathogenic for not provided

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 1p31.3(chr1:61551732-61620930)x1
NM_001134673.4(NFIA):c.1008_1009dup (p.Ser337fs) rs1553180342
NM_001134673.4(NFIA):c.1042_1046del (p.Gln348fs)
NM_001134673.4(NFIA):c.1051C>T (p.Arg351Ter) rs1422656895
NM_001134673.4(NFIA):c.1118C>G (p.Ser373Ter)
NM_001134673.4(NFIA):c.112C>T (p.Arg38Ter) rs1553149167
NM_001134673.4(NFIA):c.1270C>T (p.Gln424Ter) rs1557762822
NM_001134673.4(NFIA):c.129dup (p.His44fs)
NM_001134673.4(NFIA):c.205C>T (p.Gln69Ter) rs2100414291
NM_001134673.4(NFIA):c.220C>T (p.Arg74Ter) rs1553149182
NM_001134673.4(NFIA):c.250C>T (p.Arg84Ter) rs1553149185
NM_001134673.4(NFIA):c.25C>T (p.Gln9Ter)
NM_001134673.4(NFIA):c.274del (p.Val92fs)
NM_001134673.4(NFIA):c.2T>C (p.Met1Thr) rs1553148514
NM_001134673.4(NFIA):c.344GAA[1] (p.Arg116del) rs2100414587
NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys) rs886039429
NM_001134673.4(NFIA):c.373A>G (p.Lys125Glu) rs769522583
NM_001134673.4(NFIA):c.3G>A (p.Met1Ile)
NM_001134673.4(NFIA):c.586C>T (p.Gln196Ter) rs1553167851
NM_001134673.4(NFIA):c.739_740del (p.Ser247fs)
NM_001134673.4(NFIA):c.746del (p.Leu249fs)
NM_001134673.4(NFIA):c.763_766dup (p.Ser256fs)
NM_001134673.4(NFIA):c.889C>T (p.Gln297Ter)

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