ClinVar Miner

List of variants in gene NFIA reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001134673.4(NFIA):c.1184C>T (p.Thr395Met) rs1388708523 0.00002
NM_001134673.4(NFIA):c.1240G>T (p.Val414Leu) rs1665712349 0.00001
NM_001134673.4(NFIA):c.1286A>G (p.Asn429Ser) rs1411808673 0.00001
NM_001134673.4(NFIA):c.1373C>T (p.Pro458Leu) rs1553183336 0.00001
NM_001134673.4(NFIA):c.655A>C (p.Thr219Pro) rs750817842 0.00001
NM_001134673.4(NFIA):c.656C>T (p.Thr219Ile) rs372768940 0.00001
NM_001134673.4(NFIA):c.750A>C (p.Glu250Asp) rs751098652 0.00001
NM_001134673.4(NFIA):c.*13C>T rs2525487092
NM_001134673.4(NFIA):c.*57delinsGACCCCTTCTC
NM_001134673.4(NFIA):c.-30C>A rs937674643
NM_001134673.4(NFIA):c.1006C>G (p.Pro336Ala)
NM_001134673.4(NFIA):c.113G>A (p.Arg38Gln) rs1553149169
NM_001134673.4(NFIA):c.1255-11_1255-7delinsTCCG rs2100525321
NM_001134673.4(NFIA):c.1255-8_1255-6delinsGCCT rs796305175
NM_001134673.4(NFIA):c.1291T>C (p.Phe431Leu)
NM_001134673.4(NFIA):c.1311GCCACC[2] (p.Pro443_Pro444del) rs752078495
NM_001134673.4(NFIA):c.131A>G (p.His44Arg)
NM_001134673.4(NFIA):c.1436G>T (p.Ser479Ile) rs2525386233
NM_001134673.4(NFIA):c.1444C>T (p.Pro482Ser)
NM_001134673.4(NFIA):c.1496T>C (p.Ile499Thr) rs1666879699
NM_001134673.4(NFIA):c.1516T>C (p.Trp506Arg) rs2100594674
NM_001134673.4(NFIA):c.188A>G (p.Glu63Gly) rs2524199840
NM_001134673.4(NFIA):c.198G>C (p.Glu66Asp) rs1557555713
NM_001134673.4(NFIA):c.229G>A (p.Ala77Thr)
NM_001134673.4(NFIA):c.256G>A (p.Glu86Lys) rs2524200101
NM_001134673.4(NFIA):c.289G>T (p.Gly97Trp)
NM_001134673.4(NFIA):c.317C>T (p.Ser106Phe)
NM_001134673.4(NFIA):c.325G>C (p.Asp109His)
NM_001134673.4(NFIA):c.344GAA[4] (p.Arg116_Ile117insArgArg)
NM_001134673.4(NFIA):c.36T>A (p.Phe12Leu) rs2100413954
NM_001134673.4(NFIA):c.400G>A (p.Val134Met) rs1553149211
NM_001134673.4(NFIA):c.416G>A (p.Gly139Asp) rs2524200923
NM_001134673.4(NFIA):c.539C>T (p.Ala180Val)
NM_001134673.4(NFIA):c.581C>T (p.Pro194Leu)
NM_001134673.4(NFIA):c.617C>T (p.Pro206Leu)
NM_001134673.4(NFIA):c.628C>T (p.His210Tyr)
NM_001134673.4(NFIA):c.634G>A (p.Gly212Ser) rs2525031443
NM_001134673.4(NFIA):c.715G>A (p.Gly239Arg)
NM_001134673.4(NFIA):c.766A>G (p.Ser256Gly) rs2525109508
NM_001134673.4(NFIA):c.775C>T (p.Pro259Ser) rs2525109571
NM_001134673.4(NFIA):c.776C>T (p.Pro259Leu) rs2525109580
NM_001134673.4(NFIA):c.815C>T (p.Thr272Met)
NM_001134673.4(NFIA):c.819-11T>G rs1553177737
NM_001134673.4(NFIA):c.830G>T (p.Arg277Leu)
NM_001134673.4(NFIA):c.851A>G (p.Glu284Gly) rs2525136994
NM_001134673.4(NFIA):c.85A>T (p.Thr29Ser) rs2524199246

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