ClinVar Miner

List of variants in gene PTCH1 reported as likely pathogenic for Anophthalmia - microphthalmia

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Total variants: 3
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HGVS dbSNP
NM_001083602.2(PTCH1):c.-346del rs752765582
NM_001083602.2(PTCH1):c.2993C>T (p.Thr998Met) rs368417828
NM_001083602.2(PTCH1):c.3043G>A (p.Val1015Met) rs587778629

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