ClinVar Miner

List of variants in gene NR2F1 reported as likely pathogenic by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys) rs587777277
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg) rs587777275
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro) rs587777274
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro) rs587777276

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