ClinVar Miner

List of variants in gene FOXL2 reported as pathogenic by OMIM

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) rs121908359 0.00001
NM_023067.4(FOXL2):c.772T>A (p.Tyr258Asn) rs28937885 0.00001
NM_023067.3(FOXL2):c.684684AGCTGCGGCTGCAGC[3] (p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) rs387906322
NM_023067.4(FOXL2):c.157C>T (p.Gln53Ter) rs104893737
NM_023067.4(FOXL2):c.178_192dup (p.Val60_Ala64dup) rs863225452
NM_023067.4(FOXL2):c.205G>A (p.Glu69Lys) rs387906920
NM_023067.4(FOXL2):c.251T>G (p.Ile84Ser) rs28937884
NM_023067.4(FOXL2):c.295C>T (p.Gln99Ter) rs121908358
NM_023067.4(FOXL2):c.53_54del (p.Pro18fs) rs863225450
NM_023067.4(FOXL2):c.586C>T (p.Gln196Ter) rs104893739
NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter) rs104893741
NM_023067.4(FOXL2):c.663_692del (p.Ala225_Ala234del)
NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup) rs387906321
NM_023067.4(FOXL2):c.684_698dup (p.Ala234_Gly235insAlaAlaAlaAlaAla)
NM_023067.4(FOXL2):c.804dup (p.Gly269fs) rs797044528
NM_023067.4(FOXL2):c.822C>G (p.Tyr274Ter) rs104893738
NM_023067.4(FOXL2):c.855_871del (p.Pro287fs) rs797044532
NM_023067.4(FOXL2):c.855_871dup (p.His291fs) rs797044532
NM_023067.4(FOXL2):c.912_919dup (p.Pro307fs) rs863225451
NM_023067.4(FOXL2):c.959dup (p.Gln321fs) rs863225453

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