ClinVar Miner

List of variants in gene NR2F1 reported as pathogenic by GeneDx

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys) rs2149946003
NM_005654.6(NR2F1):c.1A>C (p.Met1Leu) rs1064796799
NM_005654.6(NR2F1):c.1A>G (p.Met1Val) rs1064796799
NM_005654.6(NR2F1):c.262G>A (p.Val88Met) rs886039714
NM_005654.6(NR2F1):c.290A>C (p.His97Pro) rs1554074673
NM_005654.6(NR2F1):c.2T>C (p.Met1Thr) rs886041216
NM_005654.6(NR2F1):c.310G>A (p.Glu104Lys) rs2149941603
NM_005654.6(NR2F1):c.317G>A (p.Cys106Tyr) rs1131691826
NM_005654.6(NR2F1):c.320A>G (p.Lys107Arg) rs2149941608
NM_005654.6(NR2F1):c.353T>G (p.Leu118Ter) rs1561523796
NM_005654.6(NR2F1):c.359dup (p.Tyr120Ter) rs2149941624
NM_005654.6(NR2F1):c.417A>T (p.Gln139His) rs778199728
NM_005654.6(NR2F1):c.424C>T (p.Arg142Cys) rs886041738
NM_005654.6(NR2F1):c.425G>A (p.Arg142His) rs1554074684

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