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

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met)	rs368417828	0.00020
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met)	rs587778629	0.00007
NC_000014.9:g.(?_56801715)_(56802375_?)del
NM_000264.5(PTCH1):c.2332A>C (p.Thr778Pro)	rs869025270
NM_001083603.3(PTCH1):c.4del (p.Glu2fs)	rs752765582
NM_021728.4(OTX2):c.730G>T (p.Ala244Ser)	rs1594952158
NM_058238.3(WNT7B):c.739C>T (p.Arg247Trp)	rs1475762618

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