ClinVar Miner

List of variants reported as likely pathogenic for Anophthalmia-microphthalmia syndrome

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Total variants: 8
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NM_000264.5(PTCH1):c.2332A>C (p.Thr778Pro) rs869025270
NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met) rs368417828
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) rs587778629
NM_001083602.2(PTCH1):c.-346del rs752765582
NM_021728.4(OTX2):c.632C>A (p.Ser211Ter)
NM_021728.4(OTX2):c.730G>T (p.Ala244Ser) rs1594952158
NM_058238.3(WNT7B):c.739C>T (p.Arg247Trp) rs1475762618

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