ClinVar Miner

List of variants in gene NR2F1 studied for Inborn genetic diseases

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_005654.6(NR2F1):c.110C>G (p.Ala37Gly)
NM_005654.6(NR2F1):c.110_115dup (p.Ala37_Gly38dup) rs1159055932
NM_005654.6(NR2F1):c.14T>C (p.Val5Ala)
NM_005654.6(NR2F1):c.179C>T (p.Ala60Val)
NM_005654.6(NR2F1):c.2T>C (p.Met1Thr) rs886041216
NM_005654.6(NR2F1):c.317G>A (p.Cys106Tyr) rs1131691826
NM_005654.6(NR2F1):c.365G>A (p.Cys122Tyr)
NM_005654.6(NR2F1):c.425G>A (p.Arg142His) rs1554074684
NM_005654.6(NR2F1):c.425G>T (p.Arg142Leu) rs1554074684
NM_005654.6(NR2F1):c.547del (p.Cys183fs)
NM_005654.6(NR2F1):c.682_684dup (p.Phe228dup) rs1753264180
NM_005654.6(NR2F1):c.92GCG[5] (p.Gly36del)
NM_005654.6(NR2F1):c.94_157del (p.Gly32fs)

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