List of variants reported as uncertain significance for obsolete anophthalmia-microphthalmia syndrome by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 80

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HGVS	dbSNP	gnomAD frequency
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg)	rs199761861	0.00016
NM_021728.4(OTX2):c.680T>G (p.Leu227Arg)	rs761733794	0.00015
NM_021728.4(OTX2):c.641C>A (p.Thr214Asn)	rs150982073	0.00013
NM_021728.4(OTX2):c.187G>T (p.Ala63Ser)	rs368759331	0.00009
NM_021728.4(OTX2):c.743C>T (p.Thr248Ile)	rs199650198	0.00009
NM_021728.4(OTX2):c.85G>A (p.Val29Met)	rs777618282	0.00005
NM_021728.4(OTX2):c.376G>C (p.Ala126Pro)	rs925178840	0.00004
NM_021728.4(OTX2):c.421C>A (p.Pro141Thr)	rs376333965	0.00004
NM_021728.4(OTX2):c.602C>A (p.Thr201Asn)	rs755578825	0.00004
NM_021728.4(OTX2):c.38A>G (p.Asn13Ser)	rs776356711	0.00003
NM_021728.4(OTX2):c.664G>A (p.Gly222Arg)	rs374968145	0.00003
NM_021728.4(OTX2):c.713A>T (p.His238Leu)	rs144449264	0.00003
NM_021728.4(OTX2):c.203C>G (p.Thr68Ser)	rs759256101	0.00002
NM_021728.4(OTX2):c.567G>A (p.Gln189=)	rs1257366193	0.00002
NM_021728.4(OTX2):c.758C>T (p.Ala253Val)	rs758228717	0.00002
NM_021728.4(OTX2):c.290G>A (p.Arg97Gln)	rs200990681	0.00001
NM_021728.4(OTX2):c.385G>C (p.Val129Leu)	rs1294096975	0.00001
NM_021728.4(OTX2):c.446C>T (p.Thr149Ile)	rs771047348	0.00001
NM_021728.4(OTX2):c.488C>T (p.Ala163Val)	rs1891907901	0.00001
NM_021728.4(OTX2):c.64A>G (p.Met22Val)	rs200680654	0.00001
NM_021728.4(OTX2):c.682A>G (p.Ser228Gly)	rs529946021	0.00001
NM_021728.4(OTX2):c.872C>T (p.Ser291Leu)	rs753156713	0.00001
NC_000014.8:g.(?_57268453)_(57272174_?)dup
NM_021728.4(OTX2):c.125C>A (p.Thr42Asn)
NM_021728.4(OTX2):c.127C>A (p.Pro43Thr)
NM_021728.4(OTX2):c.127C>G (p.Pro43Ala)	rs374042850
NM_021728.4(OTX2):c.142C>T (p.Arg48Trp)
NM_021728.4(OTX2):c.155C>G (p.Thr52Arg)
NM_021728.4(OTX2):c.167C>A (p.Ala56Glu)
NM_021728.4(OTX2):c.171G>C (p.Gln57His)
NM_021728.4(OTX2):c.190C>A (p.Leu64Met)
NM_021728.4(OTX2):c.211C>T (p.Pro71Ser)
NM_021728.4(OTX2):c.217A>T (p.Ile73Phe)
NM_021728.4(OTX2):c.225G>A (p.Met75Ile)
NM_021728.4(OTX2):c.235G>A (p.Val79Met)	rs1434432414
NM_021728.4(OTX2):c.257C>T (p.Pro86Leu)
NM_021728.4(OTX2):c.283A>G (p.Lys95Glu)
NM_021728.4(OTX2):c.286A>T (p.Asn96Tyr)	rs2139529387
NM_021728.4(OTX2):c.305G>A (p.Arg102His)
NM_021728.4(OTX2):c.377C>T (p.Ala126Val)
NM_021728.4(OTX2):c.380G>A (p.Arg127Gln)	rs199799627
NM_021728.4(OTX2):c.380G>C (p.Arg127Pro)	rs199799627
NM_021728.4(OTX2):c.380G>T (p.Arg127Leu)	rs199799627
NM_021728.4(OTX2):c.385G>A (p.Val129Met)	rs1294096975
NM_021728.4(OTX2):c.388A>T (p.Ser130Cys)
NM_021728.4(OTX2):c.392C>T (p.Ser131Leu)
NM_021728.4(OTX2):c.404C>G (p.Thr135Arg)	rs1891915573
NM_021728.4(OTX2):c.408T>A (p.Ser136Arg)
NM_021728.4(OTX2):c.425C>A (p.Pro142His)	rs199761861
NM_021728.4(OTX2):c.425C>T (p.Pro142Leu)	rs199761861
NM_021728.4(OTX2):c.440T>C (p.Val147Ala)	rs2139528876
NM_021728.4(OTX2):c.443C>T (p.Pro148Leu)	rs201721391
NM_021728.4(OTX2):c.451G>A (p.Ala151Thr)	rs770486100
NM_021728.4(OTX2):c.451G>T (p.Ala151Ser)	rs770486100
NM_021728.4(OTX2):c.458G>A (p.Ser153Asn)
NM_021728.4(OTX2):c.461G>C (p.Ser154Thr)
NM_021728.4(OTX2):c.580A>G (p.Ser194Gly)	rs765382721
NM_021728.4(OTX2):c.599C>T (p.Ser200Leu)
NM_021728.4(OTX2):c.601A>T (p.Thr201Ser)	rs748910557
NM_021728.4(OTX2):c.602C>T (p.Thr201Ile)
NM_021728.4(OTX2):c.617G>T (p.Gly206Val)
NM_021728.4(OTX2):c.640A>G (p.Thr214Ala)
NM_021728.4(OTX2):c.648G>A (p.Met216Ile)
NM_021728.4(OTX2):c.65T>C (p.Met22Thr)	rs2139537248
NM_021728.4(OTX2):c.661C>T (p.Pro221Ser)
NM_021728.4(OTX2):c.701C>T (p.Ala234Val)
NM_021728.4(OTX2):c.707C>T (p.Thr236Ile)
NM_021728.4(OTX2):c.728C>T (p.Pro243Leu)
NM_021728.4(OTX2):c.745C>T (p.Gln249Ter)	rs1891892511
NM_021728.4(OTX2):c.749G>A (p.Gly250Glu)	rs746941491
NM_021728.4(OTX2):c.74T>C (p.Leu25Pro)	rs2139537214
NM_021728.4(OTX2):c.758C>G (p.Ala253Gly)
NM_021728.4(OTX2):c.774dup (p.Asn259Ter)	rs1891889944
NM_021728.4(OTX2):c.778T>G (p.Ser260Ala)	rs2139527790
NM_021728.4(OTX2):c.782C>T (p.Thr261Ile)
NM_021728.4(OTX2):c.806A>G (p.Asp269Gly)	rs2139527692
NM_021728.4(OTX2):c.821G>A (p.Trp274Ter)	rs1891888072
NM_021728.4(OTX2):c.843C>A (p.Asp281Glu)
NM_021728.4(OTX2):c.871T>A (p.Ser291Thr)	rs2139527543
NM_021728.4(OTX2):c.94C>A (p.Pro32Thr)

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