ClinVar Miner

List of variants in gene TPO studied for Congenital hypothyroidism; Global developmental delay; Short stature; Delayed speech and language development; Delayed gross motor development; Protruding tongue; Intellectual disability, severe

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001206744.2(TPO):c.1558C>T (p.His520Tyr) rs1057518950

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